Bitcoin Cash – finance.yahoo.com

Posted on April 29, 2019 by Danzig

Bitcoin Cash ABC Slides Again

Bitcoin Cash ABC slid by 3.14% on Friday. Following on from a 6.72% tumble on Thursday, Bitcoin Cash ABC ended the day at $255.02.

A relatively bullish start to the day saw Bitcoin Cash ABC rise to an intraday high $269.27 before hitting reverse.

Falling short of the first major resistance level at $279.15, Bitcoin Cash ABC fell to a late afternoon intraday low $251.34.

In spite of the reversal, Bitcoin Cash ABC steered clear of the first major support level at $249.92 to recover to $255 levels.

At the time of writing, Bitcoin Cash ABC was up by 2.28% to $260.85. Bucking the trend from the broader market, Bitcoin Cash ABC rose from $255.02 to a morning high $261.

In spite of the early move, Bitcoin Cash ABC left the major support and resistance levels untested.

For the day ahead, a move through to $262 levels would support a run at the first major resistance level at $265.75.

Barring a broad-based crypto rally, Bitcoin Cash ABC would likely come up short of $270 levels and the second major resistance level at $276.47. Fridays high $269.27 would likely pin Bitcoin Cash ABC back on the day.

In the event of a breakout, Bitcoin Cash ABC would likely fall short of $280 levels on the day.

Failure to move through to $262 levels could see Bitcoin Cash ABC hit reverse later in the day. A fall a pullback through $258.54 would bring $251 levels into play before any recovery.

Barring a crypto sell-off, Bitcoin Cash ABC would likely steer clear of sub-$250 levels and the first major support level at $247.82.

Litecoin rose by 1.49% on Friday. Partially reversing a 3.39% slide from Thursday, Litecoin ended the day at $71.64.

A choppy start to the day saw Litecoin slide to an intraday low $68.88 before striking an intraday high $73.5.

The moves through the early hours saw Litecoin leave the major support and resistance levels untested.

Easing back from the early intraday high, Litecoin fell to an afternoon low $69.5 before finding support late in the day.

At the time of writing, Litecoin was down by 0.61% to $71.20. A bearish start to the day saw Litecoin fall from a morning high $71.83 to a low $71.13 before steadying.

Litecoin left the major support and resistance levels untested in the early hours.

For the day ahead, a move through to $71.40 levels would bring $72 levels back into play before any pullback. Support from the broader market would be needed, however, for Litecoin to take a run at $73 levels and the first major resistance level at $73.80.

Failure to move through to $71.40 levels could see Litecoin slide further into the red before any recovery.

A fall through to $70 levels would bring the first major support level at $69.18 into play. Barring a crypto meltdown, Litecoin would likely avoid a return to sub-$69 levels on the day.

Story continues

Ripples XRP rallied by 6.34% on Friday. Reversing a 3.93% slide from Thursday, Ripples XRP ended the day at $0.3092.

Bullish through the day, Ripples XRP rallied from a start of a day intraday low $0.28799 to a late intraday high $0.31149.

Steering clear of the major support levels, Ripples XRP broke through the first major resistance level at $0.3060. In spite of the day-long rally, Ripples XRP came up short of $0.32 levels and the second major resistance level at $0.3209. More modest gains elsewhere likely capped the upside on the day.

At the time of writing, Ripples XRP was down by 0.38% to $0.30802. A relatively range-bound start to the day saw Ripples XRP fall from a morning high $0.31097 to a low $0.30757.

The early moves saw Ripples XRP leave the major support and resistance levels untested.

For the day ahead, a move through to $0.31 levels would support a run at the first major resistance level at $0.3178. Following Fridays breakout, support from the broader market would be needed for return to $0.32 levels.

Barring a broad-based crypto rally, Ripples XRP would likely come up short of the second major resistance level at $0.3264.

Failure to move through to $0.31 levels could see Ripples XRP take another hit on the day. A fall through $0.3030 levels would bring the first major support level at $0.2943 into play.

Barring a crypto meltdown, Ripples XRP would likely avoid a return to $0.28 levels on the day.

Please let us know what you think in the comments below

Thanks, Bob

This article was originally posted on FX Empire

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Bitcoin Cash - finance.yahoo.com

What is Bitcoin Cash? – Coin Rivet

Posted on April 29, 2019 by Danzig

For many newcomers, cryptocurrencies can be confusing at the best of times. Not only are they extremely complex, but there are also so many of them to choose from.

Bitcoin itself is no stranger to this. There are multiple iterations of Bitcoin, from the original BTC to Bitcoin Gold and Bitcoin Private. The biggest competitor to Bitcoin though is Bitcoin Cash (BCH). BCH is a hard fork of Bitcoin that aims to solve the issue of scaling through the use of bigger blocks.

Bitcoin Cash arose due to a large scaling debate that happened within the Bitcoin community. Debates began to arise when the Bitcoin mempool began to fill up due to the amount of transactions taking place on the network. This caused Bitcoin to become slower and more expensive to send than it had been in the past.

There were two options depending on your viewpoint. The first was to scale by increasing the block size of Bitcoin, and the second was to scale via a second-layer solution such as the Lightning Network. When neither side could come to a compromise, a fork took place and led to the creation of what became known as Bitcoin Cash.

Bitcoin Cash was backed by evangelist Roger Ver and mining giant Jihan Wu along with many other industry leaders and experts. They disagreed with the idea of implementing SegWit onto Bitcoin and wanted to see Bitcoin scale to 8MB blocks.

Bigger blocks allow for more transactions to take place. However, this comes with the downside of creating a larger blockchain. Those who believe in BTC argue that bigger blocks will eventually lead to mining centralisation.

BCH supporters argue that through Moores Law technology will eventually catch up, allowing for bigger blocks to be possible without these centralisation issues.

Bigger blocks are believed to be necessary due to the fees associated with Bitcoin. When the network became extremely popular in the bull run of 2017, fees and transaction times began to rise considerably. This made it clear that Bitcoin needed to scale.

Bitcoin Cash believes that it has solved these problems through bigger blocks, which it argues allows for much lower fees.

It is impossible to discuss Bitcoin Cash without mentioning evangelist Roger Ver. Ver was one of the first people to promote Bitcoin to the world. He was an early investor in the cryptocurrency and many major cryptocurrency companies today were helped by his funding. As the owner of the bitcoin.com domain, he holds a powerful position.

Ver argues that the direction that BTC has taken has limited the cryptocurrency and allowed other altcoins to rise in prominence. He argues that Bitcoin Cash is the true Bitcoin as it is a form of peer-to-peer electronic cash, as stated in the white paper.

This has not been without controversy, and resulted in much antagonism directed towards Ver. Some have argued that Ver has misled the public in his promotion of Bitcoin Cash as the real Bitcoin an accusation he vehemently denies.

BCH went through its own drama in late 2018. After the split from BTC, BCH was led by Roger Ver, Jihan Wu, and development teams including Bitcoin Unlimited and Bitcoin ABC. They were also supported by Craig Wright of nChain and his partner Calvin Ayre.

However, their relationship soured, and another fork took place splitting Bitcoin Cash into BCH and Bitcoin Satoshis Vision (BSV).

Many members of the Bitcoin Cash community are on the r/btc subreddit. The r/btc subreddit is another split from the original r/bitcoin subreddit. The drama began when users argued that the r/bitcoin subreddit was too heavily moderated, therefore limiting free speech.

This led to the creation of r/btc, and this is where you can find the most up-to-date news on Bitcoin Cash and debates surrounding the cryptocurrency. If you want the latest news and to join the community, this is the place to start.

There are many fervent supporters of Bitcoin Cash who believe that on-chain scaling is the main solution to the current scaling issues. Although it has yet to make a dent in overtaking the original Bitcoin chain, their beliefs have not diminished. This is the main difference between Bitcoin Cash and Bitcoin the debate over scaling on-chain or via a second layer.

Arguments over the split still rage on to this day, with both sides not conceding any ground. Whilst many deride Bitcoin Cash, there is an argument to be made that the testing of an on-chain scaling solution is a good experiment for the whole of cryptocurrency.

What is Bitcoin Cash? - Coin Rivet

Human Genetics

Posted on February 15, 2019 by Danzig

A hub of deep expertise, the Department of Human Genetics helps partners across UCLA interpret data and leverage genomic technology to improve study design and solve medical problems.

We demystify genetic complexities to provide vital insights for a range of clinical and research applications. We strive to improve the care of as many patients as possible by pushing our capabilities, developing novel ways to address unanswered questions.

Your next collaboration is right down the street.

Our enviable proximity to the worlds brightest scientific minds enables both thriving scheduled events and impromptu sidewalk powwows. A casual conversation during your coffee run could lead to your next big publication.

Come find out why innovation lives here.

LEARN MORE

Steve Horvath, PhD, ScDA time to death clock called DNAm GrimAge that they claim can predict, better than any other tool, when a given person might die.Learn More

Paul Boutros, PhD, MBAResearch led by Paul Boutros found common markers of tumor hypoxia across 19 cancer types that can help inform treatment decisions.Learn More

Xinshu (Grace) Xiao and Dr. Daniel GeschwindUCLA-led team uncovers critical new clues about what goes awry in brains of people with autism.Learn More

Aldons J. Lusis, PhDScientists identify 2 hormones that burn fat faster, prevent and reverse diabetes in mice.Learn More

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Human Genetics

National Human Genome Research Institute (NHGRI)

Posted on December 5, 2018 by Danzig

FDA recognizes NHGRI's ClinGen, dataset that ties genetic variants to disease

For the first time, the Food and Drug Administration has formally recognized a public dataset of genetic variants and their relationship to disease to help accelerate the development of reliable genetic tests. Genetic test makers, including those using next-gen sequencing, can use genetic variant information in the Clinical Genome Resource (ClinGen) to support clinical validity in premarket submissions to FDA. ClinGen is administered by the National Human Genome Research Institute, part of the National Institutes of Health, and is available via ClinVar.

Andy Baxevanis, Ph.D., a senior scientist leading the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). Dr. Baxevanis was recognized for his distinguished contributions to the field of comparative genomics, particularly for using computational approaches to study the molecular innovations driving diversity in early animal evolution.

In the November issue of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program. Other topics include: ClinGen and ClinVar featured in a special issue of Human Mutation, NIH enacting a policy change for summary results from genomics studies, a request for information (RFA) on the proposed NIH Data Management and Sharing Policy, the NIH All of Us Program funding awards for genome sequencing centers, and more.

North Asians, including Mongolians and other Siberian ethnic groups, may be more closely related to Eastern and Northern Europeans - including the people of Finland - than previously thought, according to a new genomics study in Nature Genetics. The international team of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic variation data.

The National Institutes of Health has updated its Genomic Data Sharing Policy to again allow unrestricted access to genomic summary results for most of the studies it supports. These summary results come from analyzing pooled genomic data from multiple individuals together to generate a statistical result for the entire dataset. Such information can be a powerful tool for helping researchers determine which genomic variants potentially contribute to a disease or disorder. Read the blogpost co-authored by NHGRI Director Eric Green

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National Human Genome Research Institute (NHGRI)

Vogel and Motulsky’s Human Genetics: Problems and …

Posted on November 10, 2018 by Danzig

Thefourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the 10 years since the appearance of thethird edition, many new insights have emerged for understanding the genetic basis of development and function in human health and disease. Human genetics, with its emphasis on molecular concepts and techniques, has become a key discipline in medicine and the biomedical sciences.

The fourth edition has been extensively expanded by new chapters on timely topics such as epigenetics, pharmacogenetics, gene therapy, cloning, andgenetic epidemiology, and databases forbasic and clinical genetics. In addition amulti/chapter section giving an overview on the main model organisms (mouse, dog,worm, fly, fish) used in human genetics research has been introduced.

This book will be of interest to human and medical geneticists, scientists in all biomedical sciences, physicians and epidemiologists, as well as to graduate and postgraduate students who desire to learn the fundamentals of this fascinating field.

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Vogel and Motulsky's Human Genetics: Problems and ...

Human Genetics – McGraw-Hill Education

Posted on November 6, 2018 by Danzig

Introduction

C H A P T E R 1

What Is in a Human Genome?

C H A P T E R 2

Cells

C H A P T E R 3

Meiosis, Development, and Aging

P A R T 2

Transmission Genetics

C H A P T E R 4

Single-Gene Inheritance

C H A P T E R 5

Beyond Mendels Laws

C H A P T E R 6

Matters of Sex

C H A P T E R 7

Multifactorial Traits

C H A P T E R 8

Genetics of Behavior

P A R T 3

DNA and Chromosomes

C H A P T E R 9

DNA Structure and Replication

C H A P T E R 10

Gene Action: From DNA to Protein

C H A P T E R 11

Gene Expression and Epigenetics

C H A P T E R 12

Gene Mutation

C H A P T E R 13

Chromosomes

P A R T 4

Population Genetics

C H A P T E R 14

Constant Allele Frequencies and DNA Forensics

C H A P T E R 15

Changing Allele Frequencies

C H A P T E R 16

Human Ancestry and Evolution

P A R T 5

Immunity and Cancer

C H A P T E R 17

Genetics of Immunity

C H A P T E R 18

Cancer Genetics and Genomics

P A R T 6

Genetic Technology

C H A P T E R 19

DNA Technologies

C H A P T E R 20

Genetic Testing and Treatment

C H A P T E R 21

Reproductive Technologies

C H A P T E R 22

Genomics

Human genetic disease | Britannica.com

Posted on November 6, 2018 by Danzig

About 1 out of 150 live newborns has a detectable chromosomal abnormality. Yet even this high incidence represents only a small fraction of chromosome mutations since the vast majority are lethal and result in prenatal death or stillbirth. Indeed, 50 percent of all first-trimester miscarriages and 20 percent of all second-trimester miscarriages are estimated to involve a chromosomally abnormal fetus.

Chromosome disorders can be grouped into three principal categories: (1) those that involve numerical abnormalities of the autosomes, (2) those that involve structural abnormalities of the autosomes, and (3) those that involve the sex chromosomes. Autosomes are the 22 sets of chromosomes found in all normal human cells. They are referred to numerically (e.g., chromosome 1, chromosome 2) according to a traditional sort order based on size, shape, and other properties. Sex chromosomes make up the 23rd pair of chromosomes in all normal human cells and come in two forms, termed X and Y. In humans and many other animals, it is the constitution of sex chromosomes that determines the sex of the individual, such that XX results in a female and XY results in a male.

Numerical abnormalities, involving either the autosomes or sex chromosomes, are believed generally to result from meiotic nondisjunctionthat is, the unequal division of chromosomes between daughter cellsthat can occur during either maternal or paternal gamete formation. Meiotic nondisjunction leads to eggs or sperm with additional or missing chromosomes. Although the biochemical basis of numerical chromosome abnormalities remains unknown, maternal age clearly has an effect, such that older women are at significantly increased risk to conceive and give birth to a chromosomally abnormal child. The risk increases with age in an almost exponential manner, especially after age 35, so that a pregnant woman age 45 or older has between a 1 in 20 and 1 in 50 chance that her child will have trisomy 21 (Down syndrome), while the risk is only 1 in 400 for a 35-year-old woman and less than 1 in 1,000 for a woman under the age of 30. There is no clear effect of paternal age on numerical chromosome abnormalities.

Although Down syndrome is probably the best-known and most commonly observed of the autosomal trisomies, being found in about 1 out of 800 live births, both trisomy 13 and trisomy 18 are also seen in the population, albeit at greatly reduced rates (1 out of 10,000 live births and 1 out of 6,000 live births, respectively). The vast majority of conceptions involving trisomy for any of these three autosomes are nonetheless lost to miscarriage, as are all conceptions involving trisomy for any of the other autosomes. Similarly, monosomy for any of the autosomes is lethal in utero and therefore is not seen in the population. Because numerical chromosomal abnormalities generally result from independent meiotic events, parents who have one pregnancy with a numerical chromosomal abnormality are generally not at markedly increased risk above the general population to repeat the experience. Nonetheless, a small increased risk is generally cited for these couples to account for unusual situations, such as chromosomal translocations or gonadal mosaicism, described below.

Structural abnormalities of the autosomes are even more common in the population than are numerical abnormalities and include translocations of large pieces of chromosomes, as well as smaller deletions, insertions, or rearrangements. Indeed, about 5 percent of all cases of Down syndrome result not from classic trisomy 21 but from the presence of excess chromosome 21 material attached to the end of another chromosome as the result of a translocation event. If balanced, structural chromosomal abnormalities may be compatible with a normal phenotype, although unbalanced chromosome structural abnormalities can be every bit as devastating as numerical abnormalities. Furthermore, because many structural defects are inherited from a parent who is a balanced carrier, couples who have one pregnancy with a structural chromosomal abnormality generally are at significantly increased risk above the general population to repeat the experience. Clearly, the likelihood of a recurrence would depend on whether a balanced form of the structural defect occurs in one of the parents.

Even a small deletion or addition of autosomal materialtoo small to be seen by normal karyotyping methodscan produce serious malformations and mental retardation. One example is cri du chat (French: cry of the cat) syndrome, which is associated with the loss of a small segment of the short arm of chromosome 5. Newborns with this disorder have a mewing cry like that of a cat. Mental retardation is usually severe.

About 1 in 400 male and 1 in 650 female live births demonstrate some form of sex chromosome abnormality, although the symptoms of these conditions are generally much less severe than are those associated with autosomal abnormalities. Turner syndrome is a condition of females who, in the classic form, carry only a single X chromosome (45,X). Turner syndrome is characterized by a collection of symptoms, including short stature, webbed neck, and incomplete or absent development of secondary sex characteristics, leading to infertility. Although Turner syndrome is seen in about 1 in 2,500 to 1 in 5,000 female live births, the 45,X karyotype accounts for 10 to 20 percent of the chromosomal abnormalities seen in spontaneously aborted fetuses, demonstrating that almost all 45,X conceptions are lost to miscarriage. Indeed, the majority of liveborn females with Turner syndrome are diagnosed as mosaics, meaning that some proportion of their cells are 45,X while the rest are either 46,XX or 46,XY. The degree of clinical severity generally correlates inversely with the degree of mosaicism, so that females with a higher proportion of normal cells will tend to have a milder clinical outcome.

In contrast to Turner syndrome, which results from the absence of a sex chromosome, three alternative conditions result from the presence of an extra sex chromosome: Klinefelter syndrome, trisomy X, and 47,XYY syndrome. These conditions, each of which occurs in about 1 in 1,000 live births, are clinically mild, perhaps reflecting the fact that the Y chromosome carries relatively few genes, and, although the X chromosome is gene-rich, most of these genes become transcriptionally silent in all but one X chromosome in each somatic cell (i.e., all cells except eggs and sperm) via a process called X inactivation. The phenomenon of X inactivation prevents a female who carries two copies of the X chromosome in every cell from expressing twice the amount of gene products encoded exclusively on the X chromosome, in comparison with males, who carry a single X. In brief, at some point in early development one X chromosome in each somatic cell of a female embryo undergoes chemical modification and is inactivated so that gene expression no longer occurs from that template. This process is apparently random in most embryonic tissues, so that roughly half of the cells in each somatic tissue will inactivate the maternal X while the other half will inactivate the paternal X. Cells destined to give rise to eggs do not undergo X inactivation, and cells of the extra-embryonic tissues preferentially inactivate the paternal X, although the rationale for this preference is unclear. The inactivated X chromosome typically replicates later than other chromosomes, and it physically condenses to form a Barr body, a small structure found at the rim of the nucleus in female somatic cells between divisions (see photograph). The discovery of X inactivation is generally attributed to British geneticist Mary Lyon, and it is therefore often called lyonization.

The result of X inactivation is that all normal females are mosaics with regard to this chromosome, meaning that they are composed of some cells that express genes only from the maternal X chromosome and others that express genes only from the paternal X chromosome. Although the process is apparently random, not every female has an exact 1:1 ratio of maternal to paternal X inactivation. Indeed, studies suggest that ratios of X inactivation can vary. Furthermore, not all genes on the X chromosome are inactivated; a small number escape modification and remain actively expressed from both X chromosomes in the cell. Although this class of genes has not yet been fully characterized, aberrant expression of these genes has been raised as one possible explanation for the phenotypic abnormalities experienced by individuals with too few or too many X chromosomes.

Klinefelter syndrome (47,XXY) occurs in males and is associated with increased stature and infertility. Gynecomastia (i.e., partial breast development in a male) is sometimes also seen. Males with Klinefelter syndrome, like normal females, inactivate one of their two X chromosomes in each cell, perhaps explaining, at least in part, the relatively mild clinical outcome.

Trisomy X (47,XXX) is seen in females and is generally also considered clinically benign, although menstrual irregularities or sterility have been noted in some cases. Females with trisomy X inactivate two of the three X chromosomes in each of their cells, again perhaps explaining the clinically benign outcome.

47,XYY syndrome also occurs in males and is associated with tall stature but few, if any, other clinical manifestations. There is some evidence of mild learning disability associated with each of the sex chromosome trisomies, although there is no evidence of mental retardation in these persons.

Persons with karyotypes of 48,XXXY or 49,XXXXY have been reported but are extremely rare. These individuals show clinical outcomes similar to those seen in males with Klinefelter syndrome but with slightly increased severity. In these persons the n 1 rule for X inactivation still holds, so that all but one of the X chromosomes present in each somatic cell is inactivated.

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Human genetic disease | Britannica.com

The Dr. John T. Macdonald Foundation Department of Human …

Posted on August 26, 2018 by Danzig

Our mission is to become a world renowned Center of Excellence in the areas of human genetics, genomic research and clinical genomic medicine. Using clinically advanced technology, state-of-the-art equipment and highly trained professionals, we aim to uncover the genetic contributions to disease, apply our findings to better patient care, and educate the geneticists and genomicists of tomorrow.

Established through the generous support of the Dr. John T. Macdonald Foundation, we are committed to the identification of genes and gene networks that cause diseases. We are in an extraordinary period of growth, especially since the completion of the Human Genome Project in 2003. Our recognition spans far beyond traditional single-gene disorders such as sickle cell anemia and cystic fibrosis, and now encompasses knowledge associated with complex conditions such as autism, Alzheimer disease and Parkinson disease.

Like the field of Human Genetics, the University of Miami Miller School of Medicine is undergoing a period of dynamic expansion. Our vision is to manage a state-of-the-art department that will identify disease-causing genes and networks of genes, investigate possible treatments, and redefine our understanding of medicine in the 21st century. We are in an extraordinary period of growth that will position the University of Miami Miller School of Medicine as the leader in genetics and genomics research, education and service in South Florida. Thank you for visiting!

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The Dr. John T. Macdonald Foundation Department of Human ...

UCLA Human Genetics

Posted on June 16, 2018 by ev1

The Department of Human Genetics is the youngest basic science department in the Geffen School of Medicine at UCLA. When the Department was launched just prior to the sequencing of the human genome, it was clear that the practice of genetics research would be forever changed by the infusion of massive amounts of new data. Organizing and making sense of this genomic data is one of the greatest scientific challenges ever faced by mankind. The knowledge generated will ultimately transform medicine through patient-specific treatments and prevention strategies.

The Department is dedicated to turning the mountains of raw genetic data into a detailed understanding of the molecular pathogenesis of human disease. The key to such understanding is the realization that genes not only code for specific proteins, but they also control the temporal development and maturation of every living organism through a complex web of interactions.

Housed in the new Gonda Research Center, the Department serves as a focal point for genetics research on the UCLA campus, with state of the art facilities for gene expression, sequencing, genotyping, and bioinformatics. In addition to its research mission, the Department offers many exciting training opportunities for graduate students, postdoctoral fellows, and medical residents. Our faculty and staff welcome inquiries from prospective students. We also hope that a quick look at our web pages will give you a better idea of the Department's research and educational activities.

News Highlights

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UCLA Human Genetics

Human Genetics Conferences | Genetics congress | Genomics …

Posted on March 22, 2018 by jessica

Sessions/Tracks for Human Genetics Meet 2018

Human genetics study is of inheritance as it occurs in human beings. Human genetics encompasses varieties of overlapping fields including, genomics, cytogenetics, molecular genetics, classical genetics, biochemical genetics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes can be the common factor of the qualities of most human-inherited traits.

8th Bacterial Diseases Conference August 06-08, 2018, Dubai, UAE; Biomarkers Conference July 16-17, 2018, Dubai, UAE; 11th Regenerative Medicine Congress July 19-20, 2018, Dubai, UAE; 18th Medicinal Conference July 19-21, 2018, Dubai, UAE; Rare Diseases Congress August 27-29, 2018, Dubai, UAE; 5th Human Genetics Congress September 24-25, 2018, Berlin, Germany; 7th Gene Therapy Conference March 15-16, 2018, London, UK; 9th Tissue Engineering Conference April 23-24, 2018, Los Vegas, USA; Organ Transplantation congress August 24-25, 2018, Tokyo, Japan; Bioinformatics Expo November 02-03, 2018, Columbus, USA; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE; Biotechnology Conference, March 05-07, 2018, Dubai, UAE

Related Associations or Societies:

European Society Of Human Genetics, American Society of Human Genetics ,German Genetics Society,International Society of Genetic Genealogy,The American Society of Hematology,ASGCT - American Society of Gene & Cell Therapy, International Society of Genetic Genealogy

Genetic diseases may be hereditary, passed down from the parents genes. In other genetic diseases, defects may be caused by new mutations or changes to the DNA. In that case, the defect will only be passed down if it occurs in the germ line. The same disease such as some forms of cancer may be caused by an inherited genetic condition in some people, by new Hereditary mutations in other people, and mainly by the environmental causes in other people. A genetic disease is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth congenital. Most genetic diseases are quite rare and affect one person in every several thousands or millions.

Some of the Common Genetic Disorders:

2nd Radiology and Oncology Congress July 16-17, 2018, Dubai, UAE; Biomarkers Conference July 16-17, 2018, Dubai, UAE; 3rd Stem Cell Conference, July 19-20, 2018, Dubai, UAE; 3rd Molecular Diagnostics Conference April 19-20, 2018, Dubai, UAE; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE; 7th Gene Therapy Conference March 15-16, 2018, London, UK; 9th Tissue Science Conference July 13-14, 2018, Sydney, Australia; 2nd Cell Metabolism Summit September 19-20, 2018, Philadelphia, USA; 2nd Cell Metabolism Summit September 19-20, 2018, Philadelphia, USA; 4th synthetic biology Conference June11-12, Rome, Italy; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE; World Vaccines Congress, June28-30, 2018, Dubai, UAE; Biotechnology Conference, March 05-07, 2018, Dubai, UAE; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE

Related Associations or Societies:

Association of Genetic Nurses and Counselors,International Society for Computational Biology: ISCB, The Genetics Society of Japan,Genetics Society of Canada,The UCLA Institute for Society and Genetics, Reproductive Biology and Genetic society, American Public Health Association,ASGCT - American Society of Gene & Cell Therapy

Sickle-cell disorder takes place when someone inherits two bizarre copies of the haemoglobin gene, one from each parent. This gene takes place in chromosome eleven. Several subtypes exist, relying on the exact mutation in every haemoglobin gene. An assault may be activate by using temperature modifications, strain, dehydration, and high altitude. A individual with a unmarried extraordinary reproduction does not commonly have symptoms and is stated to have sickle-cell trait.

Signs and symptoms

Genetics OF sickle Cell Anaemia

Pathophysiology of sickle-cell disease.

Diagnosis of Sickle Cell Diseases

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Thalassemia is a genetic disorder which is caused as a result of abnormal haemoglobin production. Thalassemia are genetic disease inherited from a person's dad and mom. There are most important type, alpha thalassemia and beta thalassemia. The severity of alpha and beta thalassemia relies upon on how among the four genes for alpha globin or two genes for beta globin are lacking.

3rd Molecular Diagnostics Conference April 19-20, 2018, Dubai, UAE; 3rd molecular Medicine Conference April 19-20, 2018, Dubai, UAE; 3rd Stem Cell Conference, July 19-20, 2018, Dubai, UAE; 11th Regenerative Medicine Congress July 19-20, 2018, Dubai, UAE; 18th Medicinal Conference July 19-21, 2018, Dubai, UAE; 4th synthetic biology Conference June11-12, Rome, Italy; 10th Genomics Conference May 21-23, 2018, Barcelona, Spain; 12th Regenerative Medicine Conference June 04-06, 2018 , Prague, Czech Republic; 13th Tissue Engineering Conference July 13-14, 2018, Paris, France; Bioinformatics Expo November 02-03, 2018, Columbus, USA; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE; World Vaccines Congress, June28-30, 2018, Dubai, UAE; Biotechnology Conference, March 05-07, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE

Related Associations or Societies:

ASGCT - American Society of Gene & Cell Therapy, The World Medical Association, National Society of Genetic Counselors, The Society for Molecular Biology & Evolution, International Society for Computational Biology: ISCB, American Public Health Association, Genetics Society kclsu, Genetics Society of Canada

Evolutionary genetics is the broad field of studies that resulted from the integration of genetics and Darwinian evolution, called the modern synthesis. The force of mutation is the ultimate source of new genetic variation within populations. Although most mutations are neutral with no effect on fitness or harmful, some mutations have a small, positive effect on fitness and these variants are raw materials for gradualist adaptive evolution. Within finite populations, random genetic drift and natural selection affect the mutational variation. Natural selection is the only evolutionary force which can produce adaptation, the fit between organism and environment, or conserve genetic states over very long periods of time in the face of the dispersive forces of mutation and drift

18th Medicinal Conference July 19-21, 2018, Dubai, UAE; 3rd molecular Medicine Conference April 19-20, 2018, Dubai, UAE; Rare Diseases Congress August 27-29, 2018, Dubai, UAE; 2nd Radiology and Oncology Congress July 16-17, 2018, Dubai, UAE; 3rd Stem Cell Conference, July 19-20, 2018, Dubai, UAE; 9th Tissue Engineering Conference April 23-24, 2018, Los Vegas, USA; 20th biotechnology Congress March 05-07, 2018, London, UK; 9th Tissue Science Conference July 13-14, 2018, Sydney, Australia; 5th Human Genetics Congress September 24-25, 2018, Berlin, Germany; 7th Gene Therapy Conference March 15-16, 2018, London, UK; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE; World Vaccines Congress, June28-30, 2018, Dubai, UAE; Biotechnology Conference, March 05-07, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE

Related Associations or Societies:

German Genetics Society, International Society for Forensic Society, International Society of Nurses in Genetics, Preimplantation Genetic Diagnosis International Society, International Mammalian Genome Society, The American Society of Hematology, American College of Medical Genetics and Genomics (ACMG), Preimplantation Genetic Diagnosis International Society

Molecular biology is the study of molecular underpinnings of the processes of replication, transcription, translation, and cell function. Molecular biology concerns the molecular basis of biological activity between the biomolecules in various systems of a cell, gene sequencing and this includes the interactions between the DNA, RNA and proteins and their biosynthesis. In molecular biology the researchers use specific techniques native to molecular biology, increasingly combine these techniques and ideas from the genetics and biochemistry.

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In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extra chromosomal DNA or other genetic elements. Mutations result from errors during DNA replication or other types of damage to DNA, which then may undergo error-prone repair or cause an error during other forms of repair, or else may cause an error during replication translation synthesis. Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce discernible changes in the observable characteristics phenotype of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including functional diversity. The genomes of RNA viruses are based on RNA rather than DNA. The RNA viral genome can be double stranded DNA or single stranded. In some of these viruses such as the single stranded human immunodeficiency virus replication occurs quickly and there are no mechanisms to check the genome for accuracy.

3rd Stem Cell Conference, July 19-20, 2018, Dubai, UAE; Rare Diseases Congress August 27-29, 2018, Dubai, UAE; 3rd Molecular Diagnostics Conference April 19-20, 2018, Dubai, UAE; 11th Regenerative Medicine Congress July 19-20, 2018, Dubai, UAE; 2nd Cell therapy Summit November 09-10, 2018, Atlanta, USA; 20th biotechnology Congress March 05-07, 2018, London, UK; Organ Transplantation congress August 24-25, 2018, Tokyo, Japan; 4th synthetic biology Conference June11-12, Rome, Italy; 9th Tissue Science Conference July 13-14, 2018, Sydney, Australia; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE; World Vaccines Congress, June28-30, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE; Biotechnology Conference, March 05-07, 2018, Dubai, UAE

Related Associations or Societies:

American Public Health Association, Texas Genetics Society, The Genetics Society of Japan, The International Behavioral and Neural Genetics Society, British Society for Genetic Medicine, The UCLA Institute for Society and Genetics, Genetics Society kclsu

Molecular genetics is the sector of biology that research the structure and characteristic of genes at a molecular stage and hence employs strategies of each molecular biology and genetics. The study of chromosomes and gene expression of an organism can give insight into heredity, genetic variant, and mutations. This is useful in the observe of Developmental Biology and in expertise and treating genetic illnesses.

Related Associations or Societies:

The International Behavioral and Neural Genetics Society, Primary Care Genetics Society: PCGS, Association for Clinical Genetic Science, Genetics Society of Thailand, Indian Society of Human Genetics, Genetics Society of Canada, The Society for Molecular Biology & Evolution

Bioinformatics is both an umbrella term for the body of biological studies that use computer programming as part of their methodology, as well as a reference to specific analysis "pipelines" that are repeatedly used, particularly in the field of genomics. Common uses of bioinformatics include the identification of candidate genes and single nucleotide polymorphisms. Often, such identification is made with the aim of better understanding the genetic disease, unique adaptations, and desirable properties in agricultural species, or differences between populations. In a less formal way, bioinformatics also tries to understand the organizational principles within nucleic acid and protein sequences, called proteomics.

Commonly used bioinformatics Tools

8th Bacterial Diseases Conference August 06-08, 2018, Dubai, UAE; Rare Diseases Congress August 27-29, 2018, Dubai, UAE; 18th Medicinal Conference July 19-21, 2018, Dubai, UAE; 11th Regenerative Medicine Congress July 19-20, 2018, Dubai, UAE; 5th Human Genetics Congress September 24-25, 2018, Berlin, Germany; 9th Tissue Engineering Conference April 23-24, 2018, Los Vegas, USA; 4th synthetic biology Conference June11-12, Rome, Italy; 10th Genomics Conference May 21-23, 2018, Barcelona, Spain; 6th Integrative Biology Conference May 21-23, 2018, Barcelona, Spain; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE; World Vaccines Congress, June28-30, 2018, Dubai, UAE; Biotechnology Conference, March 05-07, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE

Related Associations or Societies:

European Society Of Human Genetics, The International Behavioral and Neural Genetics Society, Genetics Society kclsu, Texas Genetics Society, American Public Health Association, European Society Of Human Genetics, The Society for Molecular Biology & Evolution

Molecular modeling encompasses all methods, theoretical and computational, used to model or mimic the behavior of molecules. The methods are used in the fields of computational chemistry, drug design, computational biology and materials science to study molecular systems ranging from small chemical systems to large biological molecules and material assemblies. The simplest calculations can be performed by hand, but inevitably computers are required to perform molecular modeling of any reasonably sized system. The common feature of molecular modeling methods is the atomistic level description of the molecular systems.

Related Associations or Societies:

The Society for Molecular Biology & Evolution, The Genetics Society of Japan, Primary Care Genetics Society: PCGS, Genetics Society of Thailand, German Genetics Society, Reproductive Biology and Genetic society, European Society Of Human Genetics

DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. It includes any method or technology that is used to determine the order of the four bases is: adenine, guanine, cytosine, and thymine, in a strand of DNA. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery. Knowledge of DNA sequences has become indispensable for basic biological research, and in numerous applied fields such as medical diagnosis, biotechnology, forensic biology, virology and Primate systematics. The rapid speed of sequencing attained with modern DNA sequencing technology has been instrumental in the sequencing of complete DNA sequences, or genomes of numerous types and species of life, including the human genome and other complete DNA sequences of many animal, plants, and microbial species.

Rare Diseases Congress August 27-29, 2018, Dubai, UAE; 8th Bacterial Diseases Conference August 06-08, 2018, Dubai, UAE; 3rd Molecular Diagnostics Conference April 19-20, 2018, Dubai, UAE; 3rd molecular Medicine Conference April 19-20, 2018, Dubai, UAE; 3rd Stem Cell Conference, July 19-20, 2018, Dubai, UAE; 9th Tissue Engineering Conference April 23-24, 2018, Los Vegas, USA; 5th Human Genetics Congress September 24-25, 2018, Berlin, Germany; 10th Genomics Conference May 21-23, 2018, Barcelona, Spain; 2nd Cell Metabolism Summit September 19-20, 2018, Philadelphia, USA; 12th Regenerative Medicine Conference June 04-06, 2018 , Prague, Czech Republic; World Vaccines Congress, June28-30, 2018, Dubai, UAE; Biotechnology Conference, March 05-07, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE

Related Associations or Societies:

The World Medical Association, National Society of Genetic Counselors, The Society for Molecular Biology & Evolution, International Society for Computational Biology: ISCB, American Public Health Association,ASGCT - American Society of Gene & Cell Therapy,

Pharmacogenetics is the study of germ line mutations, the single-nucleotide polymorphisms affecting genes coding for liver enzymes responsible for drug deposition and pharmacokinetics, whereas pharmacogenomics refers to somatic mutations in tumoral DNA leading to alteration in drug response KRAS mutations in patients treated with anti-Her1 biologics. Pharmacogenetics is an inherited genetic difference in drug metabolic pathways which can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects. The term Pharmacogenetics is often used interchangeably with the term pharmacogenomics which also investigates the role of acquired and inherited genetic differences in relation to drug response and drug behavior through a systematic examination of genes, gene products, and inter- and intra-individual variation in gene expression and function.

11th Regenerative Medicine Congress July 19-20, 2018, Dubai, UAE; 18th Medicinal Conference July 19-21, 2018, Dubai, UAE; 2nd Radiology and Oncology Congress July 16-17, 2018, Dubai, UAE; Biomarkers Conference July 16-17, 2018, Dubai, UAE; 4th synthetic biology Conference June11-12, Rome, Italy; 6th Integrative Biology Conference May 21-23, 2018, Barcelona, Spain; Stem Cell Biology Congress September 03-04, 2018, Tokyo, Japan; 2nd cell Signaling Summit September 19-20 2018, Philadelphia, USA; 9th Tissue Science Conference July 13-14, 2018, Sydney, Australia; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE; World Vaccines Congress, June28-30, 2018, Dubai, UAE; Biotechnology Conference, March 05-07, 2018, Dubai, UAE

Related Associations or Societies:

Primary Care Genetics Society: PCGS, Indian Society of Human Genetics, Genetics Society of Canada, The Society for Molecular Biology & Evolution, The American Society of Hematology, International Society for Forensic Society, Association of Genetic Nurses and Counselors, International Society of Genetic Genealogy

Immunogenetics is the branch of medical research that explores the relationship between the immune system and genetics. Autoimmune diseases, such as type 1 diabetes, are complex genetic traits which result from defects in the immune system. Identification of genes defining the immune defects may identify new target genes for therapeutic approaches. Alternatively, genetic variations can also help to define the immunological pathway leading to disease.

2nd Radiology and Oncology Congress July 16-17, 2018, Dubai, UAE; 3rd molecular Medicine Conference April 19-20, 2018, Dubai, UAE; 8th Bacterial Diseases Conference August 06-08, 2018, Dubai, UAE; 3rd Stem Cell Conference, July 19-20, 2018, Dubai, UAE; 5th Human Genetics Congress September 24-25, 2018, Berlin, Germany; 10th Genomics Conference May 21-23, 2018, Barcelona, Spain; 6th Integrative Biology Conference May 21-23, 2018, Barcelona, Spain; Bioinformatics Expo November 02-03, 2018, Columbus, USA; 13th Tissue Engineering Conference July 13-14, 2018, Paris, France; Biotechnology Conference, March 05-07, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE

Related Associations or Societies:

Association for Clinical Genetic Science, Primary Care Genetics Society: PCGS, Indian Society of Human Genetics, International Society of Genetic Genealogy,The Society for Molecular Biology & Evolution,German Genetics Society

Epigenetics are stable heritable traits that cannot be explained by changes in DNA sequence. Epigenetics often refers to changes in a chromosome that affect gene activity and expression, but can also be used to describe any heritable phenotypic change that does not derive from a modification of the genome, such as prions. Such effects on cellular and physiological phenotypic traits may result from external or environmental factors, or be part of normal developmental program. Gene expression can be controlled through the action of repressor proteins that attach to silencer regions of the DNA. These epigenetic changes may last through cell divisions for the duration of the cell's life, and may also last for multiple generations even though they do not involve changes in the underlying DNA sequence of the organism; instead, non-genetic factors cause the organism's genes to behave or "express themselves" differently.

8th Bacterial Diseases Conference August 06-08, 2018, Dubai, UAE; 11th Regenerative Medicine Congress July 19-20, 2018, Dubai, UAE; 3rd Molecular Diagnostics Conference April 19-20, 2018, Dubai, UAE; 3rd Stem Cell Conference, July 19-20, 2018, Dubai, UAE; 4th synthetic biology Conference June11-12, Rome, Italy; 2nd Cell Metabolism Summit September 19-20, 2018, Philadelphia, USA; 6th Integrative Biology Conference May 21-23, 2018, Barcelona, Spain; Organ Transplantation congress August 24-25, 2018, Tokyo, Japan; Biotechnology Conference, March 05-07, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE

Related Associations or Societies:

The Genetics Society of Japan, American Public Health Association, National Society of Genetic Counselors, International Mammalian Genome Society, British Society of Genetic Medicine, International Federation of Human Genetics Societies, Genetics society of America

Translational medicine is a rapidly growing discipline in biomedical research and aims to expedite the discovery of new diagnostic tools and treatments by using a multi-disciplinary, highly collaborative; "bench-to-bedside" approach. Within public health, translational medicine is focused on ensuring that proven strategies for disease treatment and prevention are actually implemented within the community. One prevalent description of translational medicine, first introduced by the Institute of Medicine's Clinical Research Roundtable, highlights two roadblocks that is distinct areas in need of improvement the first translational block (T1) prevents basic research findings from being tested in a clinical setting; the second translational block (T2) prevents proven interventions from becoming standard practice. The National Center for Advancing Translational Science (NCATS) was established within the NIH to "transform the translational science process so that new treatments and cures for disease can be delivered to patients faster.

3rd Stem Cell Conference, July 19-20, 2018, Dubai, UAE; Rare Diseases Congress August 27-29, 2018, Dubai, UAE; 3rd Molecular Diagnostics Conference April 19-20, 2018, Dubai, UAE; 9th Tissue Engineering Conference April 23-24, 2018, Los Vegas, USA; 12th Regenerative Medicine Conference June 04-06, 2018 , Prague, Czech Republic; 13th Tissue Engineering Conference July 13-14, 2018, Paris, France; 2nd cell Signaling Summit September 19-20 2018, Philadelphia, USA; 20th biotechnology Congress March 05-07, 2018, London, UK; 9th Tissue Science Conference July 13-14, 2018, Sydney, Australia; Pediatrics Conference, Jan-29-Feb01, 2018, Dubai, UAE; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE; World Vaccines Congress, June28-30, 2018, Dubai, UAE

Related Associations or Societies:

British Society of Genetic Medicine, The Society for Molecular Biology & Evolution, Association for Clinical Genetic Science,Primary Care Genetics Society: PCGS, The American Society of Hematology,American Society of Gene & Cell Therapy

Hematopoietic stem cell transplantation is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood. It may be autologous the patient's own stem cells are used, allogeneic the stem cells come from a donor or syngeneic from an identical twin. It is a medical procedure in the field of hematology, most often performed for patients with certain cancers of the blood or bone marrow, such as multiple myeloma or leukemia. In these cases, the recipient's immune system is usually destroyed with radiation or chemotherapy before the transplantation. Infection and graft-versus-host disease are major complications of allogeneic .

Hematopoietic stem cell transplantation remains a dangerous procedure with many possible complications; it is reserved for patients with life-threatening diseases. As survival following the procedure has increased, its use has expanded beyond cancer, such as autoimmune diseases and hereditary skeletal dysplasias notably malignant infantile osteoporosis and mucopolysaccharidosis.

18th Medicinal Conference July 19-21, 2018, Dubai, UAE; 3rd molecular Medicine Conference April 19-20, 2018, Dubai, UAE; Rare Diseases Congress August 27-29, 2018, Dubai, UAE; 9th Tissue Engineering Conference April 23-24, 2018, Los Vegas, USA; Stem Cell Biology Congress September 03-04, 2018, Tokyo, Japan; 2nd cell Signaling Summit September 19-20 2018, Philadelphia, USA; 9th Tissue Science Conference July 13-14, 2018, Sydney, Australia; Biotechnology Conference, March 05-07, 2018, Dubai, UAE; World Biotechnology Congress, June 25-27, 2018, Dubai, UAE; World Vaccines Congress, June28-30, 2018, Dubai, UAE; Advanced Diabetes Conference, April 27-28, 2018, Abu Dhabi, UAE

Related Associations or Societies:

International Society for Forensic Society, International Society of Nurses in Genetics, American College of Medical Genetics and Genomics (ACMG), The Genetics Society of Japan, The World Medical Association, The American Society of Hematology

Related Research Institutes

Genetics and Molecular biology Laboratory Equipments

Genetics do play a role in how you consciously or subconsciously manifest your true self | Your genetics load the gun. Your lifestyle pulls the trigger

Breast cancer is as a consequence of complicated interactions between a wide type of genetic variations and our surroundings. The inherited thing of breast cancer hazard is due to a aggregate of unusual versions in genes consisting of BRCA1 and BRCA2 that confer a immoderate risk of the sickness, and many commoner genetic variations that every confer most effective a small chance. The newly recognized danger areas nearly double the range which is probably already identified, thereby bringing the number of recognized commonplace variants associated with breast most cancers to around one hundred eighty.

By combining epidemiological facts with different data from breast tissue, the researchers have been capable of make conceivable predictions of the target genes in the big majority of instances. In addition, they showed for the primary time that those genes are often the same as the ones which can be altered in breast tumours - when a tumour develops, the DNA within the most cancers cells themselves mutates.

Around 70% of all cases of breast cancer are oestrogen-receptor advantageous, which means that the most cancers cells have a selected protein (known as a receptor) that responds to the woman intercourse hormone oestrogen, allowing the tumour to develop. However, no longer all most cancers cells deliver this receptor - those are known as oestrogen-receptor negative. The studies identified genetic regions particularly associated with either oestrogen-receptor effective or oestrogen receptor negative breast most cancers, underscoring the reality that these are biologically awesome cancers that expand otherwise.

Genetics is all about showcasing human beauty along with high quality performance

Researchers have grown gamete, which were removed from ovary tissue at their initial stage of development, to the point at which they are ready to be germinate.This could safeguard the pregnancy of girls with cancer ahead of potentially harmful medical treatment, such as chemotherapy. Immature eggs recovered from patients' ovarian tissue could be grown in the lab and stored for later fertilization.

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Human Genetics Conferences | Genetics congress | Genomics ...

Genetics Smithsonians Human Origins Program

Posted on January 26, 2018 by jessica

DNA

Through news accounts and crime stories, were all familiar with the fact that the DNA in our cells reflects each individuals unique identity and how closely related we are to one another. The same is true for the relationships among organisms. DNA, or deoxyribonucleic acid, is the molecule that makes up an organisms genome in the nucleus of every cell. It consists of genes, which are the molecular codes for proteins the building blocks of our tissues and their functions. It also consists of the molecular codes that regulate the output of genes that is, the timing and degree of protein-making. DNA shapes how an organism grows up and the physiology of its blood, bone, and brains.

DNA is thus especially important in the study of evolution. The amount of difference in DNA is a test of the difference between one species and another and thus how closely or distantly related they are.

While the genetic difference between individual humans today is minuscule about 0.1%, on average study of the same aspects of the chimpanzee genome indicates a difference of about 1.2%. The bonobo (Pan paniscus), which is the close cousin of chimpanzees (Pan troglodytes), differs from humans to the same degree. The DNA difference with gorillas, another of the African apes, is about 1.6%. Most importantly, chimpanzees, bonobos, and humans all show this same amount of difference from gorillas. A difference of 3.1% distinguishes us and the African apes from the Asian great ape, the orangutan. How do the monkeys stack up? All of the great apes and humans differ from rhesus monkeys, for example, by about 7% in their DNA.

Geneticists have come up with a variety of ways of calculating the percentages, which give different impressions about how similar chimpanzees and humans are. The 1.2% chimp-human distinction, for example, involves a measurement of only substitutions in the base building blocks of those genes that chimpanzees and humans share. A comparison of the entire genome, however, indicates that segments of DNA have also been deleted, duplicated over and over, or inserted from one part of the genome into another. When these differences are counted, there is an additional 4 to 5% distinction between the human and chimpanzee genomes.

No matter how the calculation is done, the big point still holds: humans, chimpanzees, and bonobos are more closely related to one another than either is to gorillas or any other primate. From the perspective of this powerful test of biological kinship, humans are not only related to the great apes we are one. The DNA evidence leaves us with one of the greatest surprises in biology: the wall between human, on the one hand, and ape or animal, on the other, has been breached. The human evolutionary tree is embedded within the great apes.

The strong similarities between humans and the African great apes led Charles Darwin in 1871 to predict that Africa was the likely place where the human lineage branched off from other animals that is, the place where the common ancestor of chimpanzees, humans, and gorillas once lived. The DNA evidence shows an amazing confirmation of this daring prediction. The African great apes, including humans, have a closer kinship bond with one another than the African apes have with orangutans or other primates. Hardly ever has a scientific prediction so bold, so out there for its time, been upheld as the one made in 1871 that human evolution began in Africa.

The DNA evidence informs this conclusion, and the fossils do, too. Even though Europe and Asia were scoured for early human fossils long before Africa was even thought of, ongoing fossil discoveries confirm that the first 4 million years or so of human evolutionary history took place exclusively on the African continent. It is there that the search continues for fossils at or near the branching point of the chimpanzee and human lineages from our last common ancestor.

Due to billions of years of evolution, humans share genes with all living organisms. The percentage of genes or DNA that organisms share records their similarities. We share more genes with organisms that are more closely related to us.

Humans belong to the biological group known as Primates, and are classified with the great apes, one of the major groups of the primate evolutionary tree. Besides similarities in anatomy and behavior, our close biological kinship with other primate species is indicated by DNA evidence. It confirms that our closest living biological relatives are chimpanzees and bonobos, with whom we share many traits. But we did not evolve directly from any primates living today.

DNA also shows that our species and chimpanzees diverged from a common ancestor species that lived between 8 and 6 million years ago. The last common ancestor of monkeys and apes lived about 25 million years ago.

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Genetics Smithsonians Human Origins Program

Using Genetics to Uncover Human History – JD Supra (press release)

Posted on August 25, 2017 by Danzig

Human history is often something modern man only sees as through a glass, darkly. This is particularly the case when that history did not occur in the Mediterranean, the Nile Valley, India, or China, or when there is no written record on which scholars can rely. Exacerbating the disrupting effects of time on history can be when that history occurs in a region where extensive migration has disrupted whatever temporarily stable civilization happened to have taken root at that place at any particular time.

But humans leave traces of themselves in their history and a variety of such traces have been the source of reconstructions outside conventional sources. Luigi Cavalli-Sforza began the study of human population genetics as a way to understand this history in 1971 in The Genetics of Human Populations, and later extended these studies to include language and how it influences gene flow between human populations. More recent efforts to use genetics to reconstruct history include Deep Ancestry: The Landmark DNA Quest to Decipher Our Distant Past by Spencer Wells (National Geographic: 2006), and The Seven Daughters of Eve: The Science that Reveals our Genetic Ancestry by Brian Sykes (Carrol & Graf: 2002). And even more recently, genetic studies have illuminated the "fine structure" of human populations in England (see "Fine-structure Genetic Mapping of Human Population in Britain").

Two recent reports illustrate how genetics can inform history: the first, in the American Journal of Human Genetics entitled "Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences"; and a second in the Proceedings of the National Academy of Sciences USA, entitled "Genomic landscape of human diversity across Madagascar." In the first study, authors* from The Wellcome Trust Sanger Institute, University of Cambridge, University of Zurich, University of Otago, Bournemouth University, Lebanese American University, and Harvard University found evidence of genetic admixture over 5,000 years of a Canaanite population that has persisted in Lebanese populations into the modern era. This population is interesting for historians in view of the central location of the ancestral home of the Canaanites, the Levant, in the Fertile Crescent that ran from Egypt through Mesopotamia. The Canaanites also inhabited the Levant during the Bronze Age and provide a critical link between the Neolithic transition from hunter gatherer societies to agriculture. This group (known to the ancient Greeks as the Phoenicians) is also a link to the great early societies recognized through their historical writings and civilizations (including the Egyptians, Assyrians, Babylonians, Persians, Greeks, and Romans); if the Canaanites had any such texts or other writings they have not survived. In addition, the type of genetic analyses that have been done for European populations has not been done for descendants of inhabitants of the Levant from this historical period. This paper uses genetic comparisons between 99 modern day residents of Lebanon (specifically, from Sidon and the Lebanese interior) and ancient DNA (aDNA) from ~3,700 year old genomes from petrous bone of individuals interred in gravesites in Sidon. For aDNA, these analyses yielded 0.4-2.3-fold genomic DNA coverage and 53-264-fold mitochondrial DNA coverage, and also compared Y chromosome sequences with present-day Lebanese, two Canaanite males and samples from the 1000 Genomes Project. Over one million single nucleotide polymorphisms (SNPs) were used for comparison.

These results indicated that the Canaanite ancestry was an admixture of local Neolithic populations and migrants from Chalcolithic (Copper Age) Iran. The authors estimate from these linkage disequilibrium studies that this admixture occurred between 6,600 and 3,550 years ago, a date that is consistent with recorded mass migrations in the region during that time. Perhaps surprisingly, their results also show that the majority of the present-day Lebanese population has inherited most of their genomic DNA from these Canaanite ancestors. These researchers also found traces of Eurasian ancestry consistent with conquests by outside populations during the period from 3,750-2,170 years ago, as well as the expansion of Phoenician maritime trade network that extended during historical time to the Iberian Peninsula.

The second paper arose from genetic studies of an Asian/African admixture population on Mozambique. This group** from the University of Toulouse, INSERM, the University of Bordeaux, University of Indonesia, the Max Plank Institute for Evolutionary Anthropology, Institut genomique, Centre Nacional de Genotypage, University of Melbourne, and the Universite de la Rochelle, showed geographic stratification between ancestral African (mostly Bantu) and Asian (Austronesean) ancestors. Cultural, historical, linguistic, ethnographic, archeological, and genetic studies supports the conclusion that Madagascar residents have traits from both populations but the effects of settlement history are termed "contentious" by these authors. Various competing putative "founder" populations (including Arabic, Indian, Papuan, and/or Jewish populations as well as first settlers found only in legend, under names like "Vazimba," "Kimosy," and "Gola") have been posited as initial settlers. These researchers report an attempt to illuminate the ancestry of the Malagasy by a study of human genetics.

These results showed common Bantu and Austronesian descent for the population with what the authors termed "limited" paternal contributions from Europe and Middle Eastern populations. The admixture of African and Austronesian populations occurred "recently" (i.e., over the past millennium) but was gender-biased and heterogeneous, which reflected for these researchers independent colonization by the two groups. The results also indicated that detectable genetic structure can be imposed on human populations over a relatively brief time (~ a few centuries).

Using a "grid-based approach" the researchers performed a high-resolution genetic diversity study that included maternal and paternal lineages as well as genome-wide data from 257 villages and over 2,700 Malagasy individuals. Maternal inheritance patterns were interrogated using mitochondrial DNA and patterns of paternity assayed using Y chromosomal sequences. Non-gender specific relationships were assessed through 2.5 million SNPs. Mitochondrial DNA analyses showed maternal inheritance from either African or East Asian origins (with one unique Madagascar variant termed M23) in roughly equal amounts, with no evidence of maternal gene flow from Europe or the Middle East. The M23 variant shows evidence of recent (within 900-1500 years) origin. Y chromosomal sequences, in contrast are much more prevalent from African origins (70.7% Africa:20.7% East Asia); the authors hypothesize that the remainder may reflect Muslim influences, with evidence of but little European ancestry.

Admixture assessments support Southeast Asian (Indonesian) and East African source populations for the Malagasy admixture. These results provide the frequency of the African component to be ~59%, the Asian component frequency to be ~37%, and the Western European component to have a frequency of about 4% (albeit with considerable variation, e.g., African ancestry can range from ~26% to almost 93%). Similar results were obtained when the frequency of chromosomal fragments shared with other populations were compared to the Malagasy population (finding the closest link to Asian populations from south Borneo, and excluding Indian, Somali, and Ethiopian populations, although the analysis was sensitive in one individual to detect French Basque ancestry). The split with ancestral Asian populations either occurred ~2,500 years ago or by slower divergence between ~2,000-3,000 years ago, while divergence with Bantu populations occurred more recently (~1,500 years ago).

There were also significant differences in geographic distribution between descendants of these ancestral populations. Maternal African lineages were found predominantly in north Madagascar, with material Asian lineages found in central and southern Madagascar (from mtDNA analyses). Paternal lineages were generally much lower overall for Asian descendants (~30% in central Madagascar) based on Y chromosome analyses. Genome-wide analyses showed "highlanders" had predominantly Asian ancestry (~65%) while coastal inhabitants had predominantly (~65%) African ancestry; these results depended greatly on the method of performing the analyses which affected the granularity of the geographic correlates. Finally, assessing admixture patterns indicated that the genetic results are consistent with single intermixing event (500-900 years ago) for all but one geographic area, which may have seen a first event 28 generations ago and a second one only 4 generations ago. These researchers also found evidence of at least one population bottleneck, where the number of individuals dropped to a few hundred people about 1,000-800 years ago.

These results are represented pictorially in the paper:

In view of the current political climate, the eloquent opening of the paper deserves attention:

Ancient long-distance voyaging between continents stimulates the imagination, raises questions about the circumstances surrounding such voyages, and reminds us that globalization is not a recent phenomenon. Moreover, populations which thereby come into contact can exchange genes, goods, ideas and technologies.

* Marc Haber, Claude Doumet-Serhal, Christiana Scheib, Yali Xue, Petr Danecek, Massimo Mezzavilla, Sonia Youhanna, Rui Martiniano, Javier Prado-Martinez, Micha Szpak, Elizabeth Matisoo-Smith, Holger Schutkowski, Richard Mikulski, Pierre Zalloua, Toomas Kivisild, Chris Tyler-Smith

** Denis Pierrona, Margit Heiskea, Harilanto Razafindrazakaa, Ignace Rakotob, Nelly Rabetokotanyb, Bodo Ravololomangab, Lucien M.-A. Rakotozafyb, Mireille Mialy Rakotomalalab, Michel Razafiarivonyb, Bako Rasoarifetrab, Miakabola Andriamampianina Raharijesyb, Lolona Razafindralambob, Ramilisoninab, Fulgence Fanonyb, Sendra Lejamblec, Olivier Thomasc, Ahmed Mohamed Abdallahc, Christophe Rocherc,, Amal Arachichec, Laure Tonasoa, Veronica Pereda-lotha, Stphanie Schiavinatoa, Nicolas Brucatoa, Francois-Xavier Ricauta, Pradiptajati Kusumaa,d,e, Herawati Sudoyod,e, Shengyu Nif, Anne Bolandg, Jean-Francois Deleuzeg, Philippe Beaujardh, Philippe Grangei, Sander Adelaarj, Mark Stonekingf, Jean-Aim Rakotoarisoab, Chantal Radimilahy, and Thierry Letelliera

Using Genetics to Uncover Human History - JD Supra (press release)

Test reveals possible treatments for disorders involving MeCP2 – Baylor College of Medicine News (press release)

Posted on August 25, 2017 by Danzig

The first step consisted of genetically modifying a laboratory cell line in which the researchers could monitor the levels of fluorescent MeCP2 as they inhibited molecules that might be involved in its regulation. First author Dr. Laura Lombardi, a postdoctoral researcher in the Zoghbi lab at the Howard Hughes Medical Institute, developed this cell line and then used it to systematically inhibit one by one the nearly 900 kinase and phosphatase genes whose activity could be potentially inhibited with drugs.

We wanted to determine which ones of those hundreds of genes would reduce the level of MeCP2 when inhibited, Lombardi said. If we found one whose inhibition would result in a reduction of MeCP2 levels, then we would look for a drug that we could use.

The researchers identified four genes than when inhibited lowered MeCP2 level. Then, Lombardi and her colleagues moved on to the next step, testing how reduction of one or more of these genes would affect MeCP2 levels in mice. They showed that mice lacking the gene for the kinase HIPK2 or having reduced phosphatase PP2A had decreased levels of MeCP2 in the brain.

These results gave us the proof of principle that it is possible to go from screening in a cell line to find something that would work in the brain, Lombardi said.

Most interestingly, treating animal models of MECP2 duplication syndrome with drugs that inhibit phosphatase PP2A was sufficient to partially rescue some of the motor abnormalities in the mouse model of the disease.

This strategy would allow us to find more regulators of MeCP2, Zoghbi said. We cannot rely on just one. If we have several to choose from, we can select the best and safest ones to move to the clinic.

Beyond MeCP2, there are many other genes that cause a medical condition because they are either duplicated or decreased. The strategy Zoghbi and her colleagues used here also can be applied to these other conditions to try to restore the normal levels of the affected proteins and possibly reduce or eliminate the symptoms.

Other contributors to this work include Manar Zaghlula, Yehezkel Sztainberg, Steven A. Baker, Tiemo J. Klisch, Amy A. Tang and Eric J. Huang.

This project was funded by the National Institutes of Health (5R01NS057819), the Rett Syndrome Research Trust and 401K Project from MECP2 duplication syndrome families, and the Howard Hughes Medical Institute. This work also was made possible by the following Baylor College of Medicine core facilities: Cell-Based Assay Screening Service (NIH, P30 CA125123), Cytometry and Cell Sorting Core (National Institute of Allergy and Infectious Diseases, P30AI036211; National Cancer Institute P30CA125123; and National Center for Research Resources, S10RR024574), Pathway Discovery Proteomics Core, the DNA Sequencing and Gene Vector Core (Diabetes and Endocrinology Research Center, DK079638), and the mouse behavioral core of the Intellectual and Developmental Disabilities Research Center (NIH, U54 HD083092 from the National Institute of Child Health and Human Development).

The full study can be found inScience Translational Medicine.

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Test reveals possible treatments for disorders involving MeCP2 - Baylor College of Medicine News (press release)

Web Extras – LWW Journals (blog)

Posted on August 25, 2017 by Danzig

BY LISA COLLIER COOL

Vincent Van Gogh ranks as one of the most brilliantand prolificartists of all time, painting hundreds of masterpieces ablaze with vivid colors, bold brushstrokes, and swirling coronas. He also experienced seizures, hallucinations, and other symptoms throughout his short life that many historians, his own doctors, and Van Gogh himself attributed to a neurologic disease: epilepsy.

Other famous artists, including Willem de Kooning, who developed Alzheimer's disease, created masterful works of enduring genius while living with neurologic conditions. More recently, Chuck Close, an American painter and photographer, has talked about how his various neurologic conditions both enhance and limit his artistic output (bit.ly/NN-ChuckClose).

We spoke with John McNeil, a jazz trumpeter, to find out how a diagnosis of Charcot-Marie-Tooth disease in childhood influenced his career.

A trumpet player and bandleader who has performed with many of the greats of the music world and recorded more than a dozen critically acclaimed albums, John McNeil has been called "one of the best improvisers working in jazz" by Ben Ratliff, music critic for the New York Times. What makes his success particularly remarkable is that McNeil, 69, has a neurologic disorder that affects his breathing, facial muscles, and finger control, all of which are essential for his art.

Born Different

McNeil was born with Charcot-Marie-Tooth disease (CMT), an inherited condition that affects about one in 2,500 Americans. Named after the three doctors who discovered it, CMT damages peripheral nerves, disrupting signals from the brain to muscles, much like static on a phone line. Over time, this causes muscles to weaken and start to shrink, says Stephan Zchner, MD, PhD, professor of human genetics and neurology, chair of the department of human genetics, and co-director of the John P. Hussman Institute for Human Genomics at University of Miami Health System. "Often CMT symptoms begin in the feet, which have the longest nerves, while the hands and other parts of the body can be affected later in the disease."

In McNeil's case, the symptoms started in childhood. "By age 3, I had trouble with motor skills, and I was falling a lot because my feet had started to deform from the disease," he recalls. This common early symptom often causes people to develop very high arches that impair walking because of weakness in foot muscles. "By the time I was 11, my spine started to get twisted, and I had to wear braces on my legs and body," he adds.

A Sudden Inspiration

When he was 10, McNeil saw a TV show that sparked a lifelong passion. "I watched Louis Armstrong playing the trumpet on a variety show and thought, 'Man, that looks like fun!' I bugged my parents to get me a trumpet, and I'm pretty sure the only reason they agreed was that they'd been told my disease was progressing so fast I might not live past age 13 or 14. Not only did they get me a trumpet, but they also gave me a bunch of Louis Armstrong records that I used to teach myself how to play."

CMT is rarely fatal, says Dr. Zchner. "There are a few extreme cases when patients die at an early age while other people have very mild problems that may not start until they are middle-aged. There are more than 100 subtypes of CMT, and it's very difficult to predict how an individual patient will be affected except that people typically start with a few symptoms and over time, develop more."

Remission

At first, muscle and coordination problems made playing the trumpet difficult for McNeil, but he persisted. Then at age 16, he had a dramatic health turnaround. "The disease suddenly stopped progressing. I worked out every day, and my strength exploded. Within a year, I gained nearly 50 pounds of muscle and felt great." Soon the Yreka, CA, native had more good news to trumpet. He'd become so skilled at playing his instrument that he was invited to play first chair in the Northern California All-Star Concert Band. By the time he graduated from high school, he was playing jazz trumpet professionally.

Relapse

In the 1970s, after getting a degree in music and playing professionally around the country, he moved to New York City and began working as a freelance musician. He also began playing jazz and eventually started recording albums and touring internationally with his band. Then his disease flared up. "I started stumbling, sometimes with no warning, and dropping things. I couldn't get enough air out. Once, in the middle of recording a live album, I had trouble getting air out. I played so poorly that I begged the record company not to release it."

After several years and through sheer determination, he staged a comeback, only to be hit with an even more devastating setback. "I got my band on the road and then this disease really whacked me. I lost control of my right hand and couldn't move my fingers well enough to play the trumpet." Refusing to give up, McNeil spent the next yearand more than 1,000 hours of practiceteaching himself to play left-handed, then formed a new band called Lefty.

A Clinical Trial

However, he continued to struggle with CMT symptoms and, despite daily workouts at the gym, became increasingly frail and disabled. "I was having so much trouble walking that the doctor said I needed a wheelchair. I said no and looked around for somethinganythingthat might help." He enrolled in a small clinical study of human growth hormone, a drug approved by the US Food and Drug Administration (FDA) for certain medical conditions, but not CMT. "Within three months, I threw my cane away," McNeil says.

He was eventually able to resume playing the trumpet right-handed, aided by custom finger braces. "When I was playing left-handed, my style and musical phrasing became more economical since I couldn't rely on music memory and was learning to play all over again. When I switched back to playing right-handed, I found I carried some of this increased clarity with memaking me a much better player," he recalls. "The improvement was amazing!"

"It's extremely unusual for someone with CMT to regain any lost function," says Dr. Zchner. "However, since there's no FDA-approved treatment for this disease, if patients find any therapy they consider helpful and it isn't causing any major side effects, then I wouldn't tell them to stop using it. Exercise, such as swimming or biking, is generally advised, not to reverse the disease, but to make the body more resilient to the loss of muscular strength." Patients with CMT should also ask their neurologists about clinical trials of new treatments, he adds. "Some very promising research programs from the Charcot-Marie-Tooth Association (cmtausa.org) are expected to lead to clinical trials in the near future."

Winning Battle

Although CMT has repeatedly interrupted McNeil's career, often for years at a time, and he continues to battle a wide range of complications, including joint problems, lung infections, and chronic shortness of breath, he's now in a band called Hush Point and performs regularly at New York City clubs with a group of much younger musicians. "Without CMT, I wouldn't be the musician I am today," he says.

"Because I've had to work so hard on my body and concentration to continue playing at a professional level, I find I've become more perceptive musically: I have to completely see, feel, and hear what each note is going to sound like before I play it. While it's a continuing battle to stay at this level, I'm determined to keep fighting this disease. Every time I go out on stage, pick up my trumpet, and start improvising, I've won."

To learn more about John McNeil and his music, go to McNeilJazz.com. To listen to a clip of McNeil playing a traditional Scottish folk song called "The Water Is Wide," by an unknown composer, click on the box below. To order the full CD, Sleep Won't Come, go tobit.ly/SleepWontCome. For interviews of artists with other neurologic conditions, go to bit.ly/NN-TheArtOfIllness.

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Web Extras - LWW Journals (blog)

To Protect Genetic Privacy, Encrypt Your DNA – WIRED

Posted on August 25, 2017 by Danzig

In 2007, DNA pioneer James Watson became the first person to have his entire genome sequencedmaking all of his 6 billion base pairs publicly available for research. Well, almost all of them. He left one spot blank, on the long arm of chromosome 19, where a gene called APOE lives. Certain variations in APOE increase your chances of developing Alzheimers, and Watson wanted to keep that information private.

Except it wasnt. Researchers quickly pointed out you could predict Watsons APOE variant based on signatures in the surrounding DNA. They didnt actually do it, but database managers wasted no time in redacting another two million base pairs surrounding the APOE gene.

This is the dilemma at the heart of precision medicine: It requires people to give up some of their privacy in service of the greater scientific good. To completely eliminate the risk of outing an individual based on their DNA records, youd have to strip it of the same identifying details that make it scientifically useful. But now, computer scientists and mathematicians are working toward an alternative solution. Instead of stripping genomic data, theyre encrypting it.

Gill Bejerano leads a developmental biology lab at Stanford that investigates the genetic roots of human disease. In 2013, when he realized he needed more genomic data, his lab joined Stanford Hospitals Pediatrics Departmentan arduous process that required extensive vetting and training of all his staff and equipment. This is how most institutions solve the privacy perils of data sharing. They limit who can access all the genomes in their possession to a trusted few, and only share obfuscated summary statistics more widely.

So when Bejerano found himself sitting in on a faculty talk given by Dan Boneh, head of the applied cryptography group at Stanford, he was struck with an idea. He scribbled down a mathematical formula for one of the genetic computations he uses often in his work. Afterward, he approached Boneh and showed it to him. Could you compute these outputs without knowing the inputs? he asked. Sure, said Boneh.

Last week, Bejerano and Boneh published a paper in Science that did just that. Using a cryptographic genome cloaking method, the scientists were able to do things like identify responsible mutations in groups of patients with rare diseases and compare groups of patients at two medical centers to find shared mutations associated with shared symptoms, all while keeping 97 percent of each participants unique genetic information completely hidden. They accomplished this by converting variations in each genome into a linear series of values. That allowed them to conduct any analyses they needed while only revealing genes relevant to that particular investigation.

Just like programs have bugs, people have bugs, says Bejerano. Finding disease-causing genetic traits is a lot like spotting flaws in computer code. You have to compare code that works to code that doesnt. But genetic data is much more sensitive, and people (rightly) worry that it might be used against them by insurers, or even stolen by hackers. If a patient held the cryptographic key to their data, they could get a valuable medical diagnosis while not exposing the rest of their genome to outside threats. You can make rules about not discriminating on the basis of genetics, or you can provide technology where you cant discriminate against people even if you wanted to, says Bejerano. Thats a much stronger statement.

The National Institutes of Health have been working toward such a technology since reidentification researchers first began connecting the dots in anonymous genomics data. In 2010, the agency founded a national center for Integrating Data for Analysis, Anonymization and Sharing housed on the campus of UC San Diego. And since 2015, iDash has been funding annual competitions to develop privacy-preserving genomics protocols. Another promising approach iDash has supported is something called fully homomorphic encryption, which allows users to run any computation they want on totally encrypted data without losing years of computing time.

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Scrubbing IDs Out of Medical Records for Genetic Studies

Kristen Lauter, head of cryptography research at Microsoft, focuses on this form of encryption, and her team has taken home the iDash prize two years running. Critically, the method encodes the data in such a way that scientists dont lose the flexibility to perform medically useful genetic tests. Unlike previous encryption schemes, Lauters tool preserves the underlying mathematical structure of the data. That allows computers to do the math that delivers genetic diagnoses, for example, on totally encrypted data. Scientists get a key to decode the final results, but they never see the source.

This is extra important as more and more genetic data moves off local servers and into the cloud. The NIH lets users download human genomic data from its repositories, and in 2014, the agency started letting people store and analyze that data in private or commercial cloud environments. But under NIHs policy, its the scientists using the datanot the cloud service providerresponsible with ensuring its security. Cloud providers can get hacked, or subpoenaed by law enforcement, something researchers have no control over. That is, unless theres a viable encryption for data stored in the cloud.

If we dont think about it now, in five to 10 years a lot peoples genomic information will be used in ways they did not intend, says Lauter. But encryption is a funny technology to work with, she says. One that requires building trust between researchers and consumers. You can propose any crazy encryption you want and say its secure. Why should anyone believe you?

Thats where federal review comes in. In July, Lauters group, along with researchers from IBM and academic institutions around the world launched a process to standardize homomorphic encryption protocols. The National Institute for Standards and Technology will now begin reviewing draft standards and collecting public comments. If all goes well, genomics researchers and privacy advocates might finally have something they can agree on.

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To Protect Genetic Privacy, Encrypt Your DNA - WIRED

How Jewish activism has wiped out Tay-Sachs – The Times of Israel

Posted on August 22, 2017 by Danzig

JTA Parents of children born with Tay-Sachs disease talk about three deaths.

There is the moment when parents first learn that their child has been diagnosed with the fatal disease. Then there is the moment when the childs condition has deteriorated so badly blind, paralyzed, non-responsive that he or she has to be hospitalized. Then theres the moment, usually by age 5, when the child finally dies.

There used to be an entire hospital unit 16 or 17 beds at Kingsbook Jewish Medical Center in Brooklyn devoted to taking care of these children. It was often full, with a waiting list that admitted new patients only when someone elses child had died.

But by the late 1990s that unit was totally empty, and it eventually shut down. Its closure was a visible symbol of one of the most dramatic Jewish success stories of the past 50 years: the near-eradication of a deadly genetic disease.

Since the 70s, the incidence of Tay-Sachs has fallen by more than 90 percent among Jews, thanks to a combination of scientific advances and volunteer community activism that brought screening for the disease into synagogues, Jewish community centers and, eventually, routine medical care.

Until 1969, when doctors discovered the enzyme that made testing possible to determine whether parents were carriers of Tay-Sachs, 50 to 60 affected Jewish children were born each year in the United States and Canada. After mass screenings began in 1971, the numbers declined to two to five Jewish births a year, said Karen Zeiger, whose first child died of Tay-Sachs.

In the days before Facebook or email, activists and organizers spread the word about mass Tay-Sachs screenings through newspaper and magazine articles, posters at synagogues, and items in Jewish organizational newsletters. (Courtesy of National Tay-Sachs and Allied Diseases Association/via JTA)

It had decreased significantly, said Zeiger, who until her retirement in 2000 was the State of Californias Tay-Sachs prevention coordinator. Between 1976 and 1989, there wasnt a single Jewish Tay-Sachs birth in the entire state, she said.

The first mass screening was held on a rainy Sunday afternoon in May 1971 at Congregation Beth El in Bethesda, Maryland. The site was chosen in part for its proximity to Johns Hopkins University in Baltimore. One of the two doctors who discovered the missing hexosaminidase A enzyme, John OBrien, was visiting a lab there, and another Johns Hopkins doctor, Michael Kaback, had recently treated two Jewish couples with Tay-Sachs children, including Zeigers. Zeigers husband, Bob, was also a doctor at Johns Hopkins.

The screenings used blood tests to check for the missing enzyme that identified a parent as a Tay-Sachs carrier.

With the help of 40 trained lay volunteers and 15 physicians, more than 1,500 people volunteered for testing and were processed through the system in about 5 hours, Dr. Kaback later recalled in an article in the journal Genetics in Medicine. For me, it was like having written a symphony and hearing it for the first time and it went beautifully, without glitches.

A machine to process the tests cost $15,000. We had bazaars, cake sales, sold stockings, and thats how we raised money for the machine, Zeiger said.

Before screening, couples in which both parents were Tay-Sachs carriers almost always stopped having children after they had one child with Tay-Sachs, for fear of having another, Ruth Schwartz Cowan wrote it in her book Heredity and Hope: The Case for Genetic Screening.

But with screening, Tay-Sachs could be detected before birth, and carrier couples felt encouraged to have children, she wrote.

People named their kids after him

Dr. Kabacks work helped enable thousands of parents who were Tay-Sachs carriers to have other, healthy children.

What he did for Tay-Sachs and how he helped so many families was amazing, Zeiger said. People named their kids after him.

The screenings were transformative, and the campaign to get Jews tested for Tay-Sachs took off. This was before the advent of Facebook or email, so activists and organizers spread the word about screenings through newspaper and magazine articles, posters at synagogues, and items in Jewish organizational newsletters. Volunteers and medical professionals spoke on college campuses and sent promotional prescription pads to rabbis, obstetricians, and gynecologists. Doctors and activists enlisted rabbis and community leaders to encourage couples to be tested before getting married.

Another early mass screening event was held at a school in Waltham, Massachusetts, guided by Edwin Kolodny, a professor at New York University medical school. The first mass screening in the Philadelphia area was on November 12, 1972, at the Germantown Jewish Center, and drew 800 people, according to a Yale senior thesis by David Gerber, Genetics for the Community: The Organized Response To Tay-Sachs Disease, 1955-1995.

Nearly half a century later, the Tay-Sachs screening effort remains a model for mobilizing a community against genetic disease. Parent activists, scientists and doctors are trying to emulate that model with other diseases and other populations.

You cant be complacent, because now there are 200 diseases you can test for

You cant be complacent, because now there are 200 diseases you can test for, said Kevin Romer, president of the Matthew Forbes Romer Foundation and a past president of the National Tay-Sachs and Allied Diseases Association. The foundation is named for Romers son Matthew, who died of Tay-Sachs in 1996.

Romer and others involved with this issue stress the importance of screening interfaith couples, too. Non-Jews may also benefit from pre-conception screening for Tay-Sachs and other diseases. Some research indicates, for example, that Louisiana Cajuns, French Canadians and individuals with Irish lineage may also have an elevated incidence of Tay-Sachs.

Heredity and Hope: The Case for Genetic Screening, by Ruth Schwartz Cowan. (Courtesy)

Scientific progress means that Jews can now be screened for over 200 diseases with an at-home, mail-in test offered by JScreen. The four-year-old nonprofit affiliated with Emory Universitys Department of Human Genetics has screened thousands of people, and the subsidized fee for the test about $150 includes genetic counseling.

While some genetic tests are standard doctors office procedure for pregnant women or couples trying to get pregnant with a doctors help, JScreen aims for pre-conception screening. The test includes diseases common in those with Ashkenazi, Sephardi, and Mizrahi backgrounds as well as general population diseases, making it relevant for Jewish couples and interfaith couples.

Carrier screening gives people an opportunity to plan ahead for the health of their future families. We are taking lessons learned from earlier screening initiatives and bringing the benefits of screening to a new generation, said Karen Arnovitz Grinzaid, executive director of JScreen. It was a path pioneered by the Tay-Sachs screening that began in 1971.

In Cowans book, she mentions a chart prepared by Dr. Kaback reporting on 30 years of screening: 1.3 million people screened, 48,000 carriers detected, 1,350 carrier couples detected, 3,146 pregnancies monitored.

Kaback and his colleagues could well have stopped there, she wrote. But they did not. There is one more figure, the one that matters most and that goes the furthest in explaining why Ashkenazi Jews accept carrier screening after monitoring with pre-natal diagnosis, 2,466 unaffected offspring were born to parents who were both Tay-Sachs carriers.

This article was sponsored by and produced in partnership with JScreen, whose goal of making genetic screening as simple, accessible, and affordable as possible has helped couples across the country have healthy babies. To access testing 24/7, request a kit at JScreen.org or gift a JScreen test as a wedding present. This article was produced by JTAs native content team.

Widespread testing is credited with helping reduce the incidence of Tay-Sachs among Jews by more than 90 percent since screenings began in the early 1970s. (Courtesy of National Tay-Sachs and Allied Diseases Association/via JTA)

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How Jewish activism has wiped out Tay-Sachs - The Times of Israel

Gene editing used to repair diseased genes in embryos – NHS Choices

Posted on August 22, 2017 by Danzig

Deadly gene mutations removed from human embryos in landmark study, reports The Guardian. Researchers have used a gene-editing technique to repair faults in DNA that can cause an often-fatal heart condition called hypertrophic cardiomyopathy.

This inherited heart condition is caused by a genetic change (mutation) in one or more genes. Babies born with hypertrophic cardiomyopathy have diseased and stiff heart muscles, which can lead to sudden unexpected death in childhood and in young athletes.

In this latest study researchers used a technique called CRISPR-cas9 to target and then remove faulty genes. CRISPR-cas9 acts like a pair of molecular scissors, allowing scientists to cut out certain sections of DNA. The technique has attracted a great deal of excitement in the scientific community since it was released in 2014. But as yet, there have been no practical applications for human health.

The research is at an early stage and cannot legally be used as treatment to help families affected by hypertrophic cardiomyopathy. And none of the modified embryos were implanted in the womb.

While the technique showed a high degree of accuracy, its unclear whether it is safe enough to be developed as a treatment. The sperm used in the study came from just one man with faulty genes, so the study needs to be repeated using cells from other people, to be sure that the findings can be replicated.

Scientists say it is now important for society to start a discussion about the ethical and legal implications of the technology. It is currently against the law to implant genetically altered human embryos to create a pregnancy, although such embryos can be developed for research.

The study was carried out by researchers from Oregon Health and Science University and the Salk Institute for Biological Studies in the US, the Institute for Basic Science and Seoul University in Korea, and BGI-Shenzen and BGI-Quingdao in China. It was funded by Oregon Health and Science University, the Institute for Basic Science, the G. Harold and Leila Y. Mathers Charitable Foundation, the Moxie Foundation and the Leona M. and HarryB. Helmsley Charitable Trust and the Shenzhen Municipal Government of China. The study was published in the peer-reviewed journal Nature.

The Guardian carried a clear and accurate report of the study. While their reports were mostly accurate, ITV News, Sky News and The Independent over-stated the current stage of research, with Sky News and ITV News saying it could eradicate thousands of inherited conditions and the Independent claiming it opens the possibility for inherited diseases to be wiped out entirely. While this may be possible, we dont know whether other inherited diseases might be as easily targeted as this gene mutation.

Finally, the Daily Mail rolls out the arguably tired clich of the technique leading to designer babies, which seems irrelevant at this point. The CRISPR-cas9 technique is only in its infancy and (ethics aside) its simply not possible to use genetic editing to select desirable characteristics - most of which are not the result of one single, identifiable gene. No reputable scientist would attempt such a procedure.

This was a series of experiments carried out in laboratories, to test the effects of the CRISPR-Cas9 technique on human cells and embryos. This type of scientific research helps us understand more about genes and how they can be changed by technology. It doesnt tell us what the effects would be if this was used as a treatment.

Researchers carried out a series of experiments on human cells, using the CRISPR-cas9 technique first on modified skin cells, then on very early embryos, and then on eggs at the point of fertilisation by sperm. They used genetic sequencing and analysis to assess the effects of these different experiments on cells and how they developed, up to five days. They looked specifically to see what proportion of cells carrying faulty mutations could be repaired, whether the process caused other unwanted mutations, and whether the process repaired all cells in an embryo, or just some of them.

They used skin cells (which were modified into stem cells) and sperm from one man, who carried the MYBPC3 mutation in his genome, and donor eggs from women without the genetic mutation. This is the mutation known to cause hypertrophic cardiomyopathy.

Normally in such cases, roughly half the embryos would have the mutation and half would not, as theres a 50-50 chance of the embryo inheriting the male or female version of the gene.

The CRISPR-cas9 technique can be used to select and delete specific genes from a strand of DNA. When this happens, usually the cut ends of the strand join together, but this causes problems so cant be used in the treatment of humans. The scientists created a genetic template of the healthy version of the gene, which they introduced at the same time as using CRISPR-cas9 to cut the mutated gene. They hoped the DNA would repair itself with a healthy version of the gene.

One important problem with changing genetic material is the development of mosaic embryos, where some of the cells have corrected genetic material and others have the original faulty gene. If that happened, doctors would not be able to tell whether or not an embryo was healthy.

The scientists needed to test all the cells in the embryos produced in the experiment, to see whether all cells had the corrected gene or whether the technique had resulted in a mixture. They also did whole genome sequencing on some embryos, to test for unrelated genetic changes that might have been introduced accidentally during the process.

All embryos in the study were destroyed, in line with legislation about genetic research on embryos.

Researchers found that the technique worked on some of the stem cells and embryos, but worked best when used at the point of fertilisation of the egg. There were important differences between the way the repair worked on the stem cells and the egg.

Only 28% of the stem cells were affected by the CRISPR-cas9 technique. Of these, most repaired themselves by joining the ends together, and only 41% were repaired by using a corrected version of the gene.

67% of the embryos exposed to CRISPR-cas9 had only the correct version of the gene higher than the 50% that would have been expected had the technique not been used. 33% of embryos had the mutated version of the gene, either in some or all their cells.

Importantly, the embryos didnt seem to use the template injected into the zygote to carry out the repair, in the way the stem cells did. They used the female version of the healthy gene to carry out the repair, instead.

Of the embryos created using CRISPR-cas9 at the point of fertilisation, 72% had the correct version of the gene in all their cells, and 28% had the mutated version of the gene in all their cells. No embryos were mosaic a mixture of cells with different genomes.

The researchers found no evidence of mutations induced by the technique, when they examined the cells using a variety of techniques. However, they did find some evidence of gene deletions caused by DNA strands splicing (joining) themselves together without repairing the faulty gene.

The researchers say they have demonstrated how human embryos employ a different DNA damage repair system to adult stem cells, which can be used to repair breaks in DNA made using the CRISPR-cas9 gene-editing technique.

They say that targeted gene correction could potentially rescue a substantial portion of mutant human embryos, and increase the numbers available for transfer for couples using pre-implantation diagnosis during IVF treatment.

However, they caution that despite remarkable targeting efficiency, CRISPR-cas9-treated embryos would not currently be suitable for transfer. Genome editing approaches must be further optimised before clinical application can be considered, they say.

Currently, genetically-inherited conditions like hypertrophic cardiomyopathy cannot be cured, only managed to reduce the risk of sudden cardiac death. For couples where one partner carries the mutated gene, the only option to avoid passing it on to their children is pre-implantation genetic diagnosis. This involves using IVF to create embryos, then testing a cell of the embryo to see whether it carries the healthy or mutated version of the gene. Embryos with healthy versions of the gene are then selected for implantation in the womb.

Problems arise if too few or none of the embryos have the correct version of the gene. The researchers suggest their technique could be used to increase the numbers of suitable embryos. However, the research is still at an early stage and has not yet been shown to be safe or effective enough to be considered as a treatment.

The other major factor is ethics and the law. Some people worry that gene editing could lead to designer babies, where couples use the tool to select attributes like hair colour, or even intelligence. At present, gene editing could not do this. Most of our characteristics, especially something as complex as intelligence, are not the result of one single, identifiable gene, so could not be selected in this way. And its likely that, even if gene editing treatments became legally available, they would be restricted to medical conditions.

Designer babies aside, society needs to consider what is acceptable in terms of editing human genetic material in embryos. Some people think that this type of technique is "playing God" or is ethically unacceptable because it involves discarding embryos that carry faulty genes. Others think that its rational to use the scientific techniques we have developed to eliminate causes of suffering, such as inherited diseases.

This research shows that the questions of how we want to legislate for this type of technique are becoming pressing. While the technology is not there yet, it is advancing fast. This research shows just how close we are getting to making genetic editing of human embryos a reality.

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Gene editing used to repair diseased genes in embryos - NHS Choices

A Closer Look at the Human Gene Editing Lab – Futurism

Posted on August 21, 2017 by Danzig

In BriefAs the scientific community takes in the work of the team whoedited the DNA of the human embryos this month, different opinionsabout the safety, efficacy, and potential of the technique abound. The Gene Editing Process

In a lab at Oregon Health & Science University, biologist Shoukhrat Mitalipov and a team of experts have been exploring and learning how to edit the DNA in human embryos efficiently and safely. This month, they announced their successful edit and correction of a mutation which causes a heart condition that can be fatal hopefully the first landmark step of many on the road to preventing thousands of genetic diseases with editing.

To edit an embryo, a researcher will begin by taking a human egg and monitoring it on a computer screen. They will then inject, with a pipette, donor sperm and CRISPR, microscopic chemical sequences that act as a gene-editing tool, that is designed to make the precise desired edit. CRISPR then goes to work, slicing the target defect from the DNA. After this editing process, the scientists place the embryos created using the process in an incubator and monitor them.

Mitalipov and the team believe that the editing process finally started to work when they began to inject the sperm and CRISPR into the egg simultaneously. Waiting until the embryos were already created produced results that were less accurate and more likely to be plagued by dangerous mutations. And, while the team isnt totally certain on how the process works, they believe that the slice CRISPR makes as it targets defects triggers the repair process in the embryo.

Thus far, the results from this study appear to be promising. However, many questions in the scientific community about the technique itself and the underlying ethics of the process remain. For example, the technique has not yet been reproduced by other teams, and some scientists believe that the data doesnt support the conclusions Mitalipov and the team are claiming.

Others are more concerned that this kind of technology has not been proven safe. worried that less careful scientists might rush ahead too quickly and attempt to make babies before the technique has been proven to work and be safe. Any change to the genome, or germline editing, could be passed along for generations, perpetuating mistakes and even potentially leading to the development of new diseases. Harvard Medical School Dean George Daley told NPR, I think it would be professionally irresponsible for any clinician to use this technology to make a baby. Its just simply too early. It would be premature.

Still, others are critical of the technique from an ethical standpoint, arguing that scientists editing embryos are playing God, and pushing the field toward selling the ability to create designer babies to parents who can afford the technology. I think its extraordinarily disturbing, Marcy Darnovsky, head of the watchdog group the Center for Genetics and Society, told NPR. Well see fertility clinics advertising gene editing for enhancement purposes. Well see children being born who are said to biologically superior.

Mitalipov and the team acknowledge these criticisms and agree, specifically, that the technique requires reproduction and further testing and should be used for medical purposes only. However, they point out the amazing potential that the technology has to improve our world and the quality of human life. Mitalipov thinks the process may eventually be able to wipe out many genetic diseases:

[There are] about 10,000 different mutations causing so many different conditions and diseases, he said to NPR. Were talking about millions of people affected. So I think the implications are huge.

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A Closer Look at the Human Gene Editing Lab - Futurism

Life Lessons: Next generation testing – WFMZ Allentown

Posted on August 21, 2017 by Danzig

VIDEO Life Lessons: Next generation...

When Audrey Lapidus 10-month old son, Calvin, didnt reach normal milestones like rolling over or crawling, she knew something was wrong.

He was certainly different from our first child, said Lapidus, of Los Angeles. He had a lot of gastrointestinal issues and we were taking him to the doctor quite a bit.

Four specialists saw Calvin and batteries of tests proved inconclusive. Still, Lapidus persisted.

I was pushing for even more testing, and our geneticist at UCLA said, If you can wait one more month, were going to be launching a brand new test called exome sequencing, she said. We were lucky to be in the right place at the right time and get the information we did.

In 2012, Calvin Lapidus became the first patient to undergo exome sequencing at UCLA. He was subsequently diagnosed with a rare genetic condition known as Pitt-Hopkins Syndrome, which is most commonly characterized by developmental delays, possible breathing problems, seizures and gastrointestinal problems.

Though there is no cure for Pitt-Hopkins, finally having a diagnosis allowed Calvin to begin therapy.

The diagnosis gave us a point to move forward from, rather than just existing in that scary no-mans land where we knew nothing, Lapidus said.

Unfortunately, there are a lot of people living in that no-mans land, desperate for any type of answers to their medical conditions, said Dr. Stanley Nelson, professor of human genetics and pathology and laboratory medicine at the David Geffen School of Medicine at UCLA. Many families suffer for years without so much as a name for their condition.

What exome sequencing allows doctors to do is to analyze more than 20,000 genes at once, with one simple blood test.

In the past, genetic testing was done one gene at a time, which is time-consuming and expensive.

Rather than testing one sequential gene after another, exome sequencing saves time, money and effort, said Dr. Julian Martinez-Agosto, a pediatrician and researcher at the Resnick Neuropsychiatric Hospital at UCLA.

The exome consists of all the genomes exons, which are the coding portion of genes. Clinical exome sequencing is a test for identifying disease-causing DNA variants within the 1 percent of the genome which codes for proteins, the exons, or flanks the regions which code for proteins, called splice junctions.

To date, mutations in the protein-coding parts of genes accounts for nearly 85 percent of all mutations known to cause genetic diseases, so surveying just this portion of the genome is an efficient and powerful diagnostic tool. Exome sequencing can help detect rare disorders like spinocerebellar ataxia, which progressively diminishes a persons movements, and suggest the likelihood of more common conditions like autism spectrum disorder and epilepsy.

More than 4,000 adults and children have undergone exome testing at UCLA since 2012. Of difficult to solve cases, more than 30 percent are solved through this process, which is a dramatic improvement over prior technologies. Thus, Nelson and his team support wider use of genome-sequencing techniques and better insurance coverage, which would further benefit patients and resolve diagnostically difficult cases at much younger ages.

Since her sons diagnosis, Lapidus helped found the Pitt-Hopkins Syndrome Research Foundation. Having Calvins diagnosis gave us a roadmap of where to start, where to go and whats realistic as far as therapies and treatments, she said. None of that would have been possible without that test.

Next, experts at UCLA are testing the relative merits of broader whole genome sequencing to analyze all 6 billion bases that make up a persons genome. The team is exploring integration of this DNA sequencing with state-of-the-art RNA or gene expression analysis to improve the diagnostic rate.

The entire human genome was first sequenced in 1990 at a cost of $2.7 billion. Today, doctors can perform the same test at a tiny fraction of that cost, and believe that sequencing whole genomes of individuals could vastly improve disease diagnoses and medical care.

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Life Lessons: Next generation testing - WFMZ Allentown

Evolutionary Biologists Probe Long-standing Genetics Mystery – Yale News

Posted on August 20, 2017 by Danzig

August 17, 2017

Photo credit: Dreamstime

What makes humans different from chimpanzees? Evolutionary biologists from Howard University and the Yale School of Public Health have developed a unique genetic analysis technique that may provide important answers.

Michael C. Campbell, Ph.D., the papers first author and assistant professor in the Howard University Department of Biology, and co-author Jeffrey Townsend, Ph.D., the Elihu Associate Professor in Biostatistics at Yale, published their findings in the journal Molecular Biology and Evolution.

Their methodModel Averaged Site Selection via Poisson Random Field (MASS-PRF)looks at protein-coding genes to identify genetic signatures of positive selection. These signatures are actually DNA changes that contribute to the development of beneficial traits, or human adaptations, that emerged during human evolutionary history and that are shared across the human species.

It's a quantum leap in our statistical power to detect selection in recently diverged species.

Other approaches have examined this question but analyses have focused on whole genes, typically missing focused evolution that often occurs in small regions of genes. The method Campbell and Townsend created identifies selection within genes, pinpointing sets of mutations that have undergone positive selection.

Our method is a new way of looking for beneficial mutations that have become fixed or occur at 100 percent frequency in the human species, Campbell said. What we are concerned with are mutations within genes and traits that are specific to humans compared to closely related species, such as the chimpanzee. Essentially, we want to know is what are the mutations and traits that make us human and that unite us as a biological species.

Townsend said the technique has far-reaching implications. It helped the research team discover several genes whose evolution appears to have been critical to the divergence of humans from their common ancestor with chimpanzees. The genes play roles in neurological processing, immunity, and reproduction, and the method could eventually help scientists identify many more. It's a quantum leap in our statistical power to detect selection in recently diverged species, Townsend said.

Campbell began the research project with Drs. Zhao and Townsend while they were associate research scientists in the Department of Biostatistics at the Yale School of Public Health, before he arrived at Howard University in 2015. Dr. Zhao, currently a research scientist at The Jackson Laboratory for Genomic Medicine, co-authored the paper.

This article was submitted by Elisabeth Ann Reitman on August 17, 2017.

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