Category Archives: Human Genetics

PUBLIC RELEASE DATE:

19-Oct-2014

Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety

BETHESDA, MD A child's genetic makeup may contribute to his or her mother's risk of rheumatoid arthritis, possibly explaining why women are at higher risk of developing the disease than men. This research will be presented Tuesday, October 21, at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego.

Rheumatoid arthritis, a painful inflammatory condition that primarily affects the joints, has been tied to a variety of genetic and environmental factors, including lifestyle factors and previous infections. Women are three times more likely to develop rheumatoid arthritis than men, with peak rates among women in their 40s and 50s. Certain versions of the immune system gene HLA-DRB1, known collectively as the shared epitope alleles, are associated with the condition. HLA genes are best known for their involvement in the immune system's response to infection and in transplant medicine for differentiating between one's own cells and those that are foreign.

The female predilection of rheumatoid arthritis strongly suggests that factors involved in pregnancy are involved, said Giovanna Cruz, MS, graduate student at the University of California, Berkeley, and first author on the new study.

"During pregnancy, you'll find a small number of fetal cells circulating around the mother's body, and it seems that in some women, they persist as long as several decades. Women with rheumatoid arthritis are more likely to have this persistence of fetal cells, known as fetal microchimerism, than women without the condition, suggesting that it is a potential risk factor for the development of rheumatoid arthritis," Ms. Cruz said. "Why it happens, we don't know, but we suspect HLA genes and their activity may be involved," she explained.

The researchers analyzed the genes of women with and without the shared epitope or other forms of HLA genes associated with risk of rheumatoid arthritis, and their children. They found that having children with these high-risk alleles inherited from the children's father increased the women's risk of rheumatoid arthritis, even after accounting for differences among the mothers' genes. These results showed that beyond a woman's own genetic risk of rheumatoid arthritis, there is additional risk conferred by carrying and bearing children with certain high-risk alleles.

"We don't yet understand how the shared epitope and other HLA alleles influence rheumatoid arthritis risk, but one possibility is that interactions between the proteins these genes encode may stimulate the autoimmune symptoms of the disease," Ms. Cruz said. In other words, a woman's immune system may detect proteins produced by the fetus and mistakenly tag lingering fetal cells as a threat, causing an immune reaction and symptoms of rheumatoid arthritis.

In addition to explaining why women are at increased risk of rheumatoid arthritis, the findings may lead to new ways of assessing a woman's risk of disease depending on whether her children or partner carries high-risk versions of genes, an area of research that Ms. Cruz and her colleagues are planning to explore. Other future research includes genetically analyzing multiple generations of rheumatoid arthritis cases, including mothers of people with the disease, and further exploring the role of HLA-encoded proteins and microchimerism.

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Children's genes affect their mothers' risk of rheumatoid arthritis

PUBLIC RELEASE DATE:

19-Oct-2014

Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety

BETHESDA, MD Breaking down complex conditions such as Type 2 Diabetes and obesity into the specific metabolic proteins and processes that underlie them offers a new approach to studying the genetics of these diseases and how they are interrelated, according to research presented today at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego.

By studying specific proteins that contribute to such conditions and the genes that encode them scientists can develop new drugs that directly target the metabolic processes that do not function properly, explained lead author Jennifer E. Below, PhD, of The University of Texas Health Science Center at Houston (UTHealth) School of Public Health.

"In fact, genes that affect the same process at the protein level can end up influencing multiple traits in tandem," said Dr. Below. Working with colleagues at the Baylor College of Medicine, Harvard Medical School, and the University of Chicago, Dr. Below found that genes that regulate a person's circadian cycle affect quality of sleep but could also put him or her at risk for diabetes. Similarly, the researchers learned, a group of related proteins involved in immune system functions and interactions between cells also plays a role in heart health.

"Findings such as this highlight the importance of capturing the array of effects of genes, rather than treating each analysis as independent. Traits don't exist in silos; they are richly connected and interacting, and we benefit by acknowledging this in our genetic analyses," Dr. Below said.

The researchers have focused their efforts in Starr County, Texas, a community where trends in obesity and Type 2 Diabetes rates have steadily remained about 30 years ahead of the rest of the country. They have sequenced the genomes of more than 1,400 people in Starr County, studying relationships among many traits that affect obesity and diabetes, such as weight, sleep patterns, heart health, eye health, immune function, fat levels, and blood pressure. This allows them to tease apart the roles of lifestyle and environmental factors, including how these traits may affect one another.

"Rates of obesity and diabetes have been increasing at an alarming pace in recent decades," Dr. Below said. "While we know that the genes present in Starr County haven't changed over that period, genetics still presents the best opportunity to study what's happening. By breaking these conditions down into detailed traits and genetic sequence data, we could inform potential treatments," she explained.

In the future, Dr. Below and colleagues plan to study families in order to analyze rare genetic variants that may be present in larger numbers than in the general population, some of which may have a major effect on disease.

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Metabolic genetics research paves way to treating diabetes and obesity

PUBLIC RELEASE DATE:

18-Oct-2014

Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine @bcmhouston

HOUSTON -- (Oct. 18, 2014) Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston.

In an online report in the Journal of the American Medical Association, the scientists led by Drs. Yaping Yang, laboratory director of the Whole Genome Laboratory at Baylor, and Christine Eng, professor of molecular and human genetics at Baylor and senior director of Baylor's Medical Genetics Laboratories, found a molecular diagnosis (meaning a genetic mutation or variation linked to a disease) in 25 percent of the large group of cases confirming in this much larger group of patients the diagnostic yield from their initial report on the first 250 cases that appeared in the New England Journal of Medicine a little more than a year ago.

Eng will also present results of the study on Oct. 21 during the American Society of Human Genetics Annual Meeting in San Diego, Calif.

"The findings in this report, I believe, will forever change the future practice of pediatrics and medicine as a whole," said Dr. James R. Lupski, professor of molecular and human genetics and pediatrics at Baylor and a coauthor of the report. "It is just a matter of time before genomics moves up on the physician's list of things to do and is ordered before formulating a differential diagnosis. It will be the new 'family history' that, better yet, gets you both the important variants inherited from each parent and the new mutations that contribute to disease susceptibility."

In fact, a large percentage of the diagnoses made were patients who inherited a new mutation (in the egg or sperm) that was not previously seen in their parents.

"The routine application of new genome methods in the clinic is not only benefitting patients but changing the way we think about research," said Dr. Richard Gibbs, director of the Baylor College of Medicine Human Genome Sequencing Center and an author of the report.

"It has been wonderful to watch this very large team of colleagues bridging from the patient in clinic to the very most cutting edge genomic technology to give families answers where previously there were none," said Dr. Arthur Beaudet, professor of molecular and human genetics who was chair of the department when the Whole Gene Laboratory was begun and who began the Baylor College of Medicine Medical Genetics Laboratories.

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Whole exome sequencing closer to becoming 'new family history'

PUBLIC RELEASE DATE:

17-Oct-2014

Contact: Robert Redmond rredmond@cshl.edu 516-422-4101 Cold Spring Harbor Laboratory @CSHLnews

Since the appearance of modern humans in Africa around 200,000 years ago, we have migrated around the globe and accumulated genetic variations that affect various traits, including our appearance, skin color, food tolerance, and susceptibility to different diseases. Large-scale DNA sequencing is now allowing us to map the patterns of human genetic variation more accurately than ever before, trace our ancestries, and develop personalized therapies for particular diseases. It is also reinforcing the idea that human populations are far from homogeneous, are highly intermixed, and do not fall into distinct races or castes that can be defined genetically.

Human Variation from Cold Spring Harbor Laboratory Press provides a state-of-the-art view of human genetic variation and what we can infer from it, surveying the genetic diversity seen in Africa, Europe, the Americas, and India. The contributors discuss what this can tell us about human history and how it can be used to improve human health. They also caution against assumptions that differences between individuals always stem from our DNA, stressing the importance of nongenetic forces and pointing out the limits of our knowledge. The book is thus essential reading for all human geneticists and anyone interested in how we differ and what this means.

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New book from CSHL Press with focus on genetics, personalized medicine and human diversity

FREMONT, Calif., Oct. 17, 2014 /PRNewswire/ --WaferGen Bio-systems, Inc. (Nasdaq: WGBS) announced today that three papers describing the utility and versatility of its SmartChip and Apollo 324 technologies will be presented at the American Society of Human Genetics (ASHG) 2014 meeting.

WaferGen has collaborated with notable academic and commercial clinical reference CLIA labs and will be highlighted in several scientific papers at ASHG. Collaborators include Prof. Yusuke Nakamura at the University of Chicago and Dr. Yuriy Shevchenko from GeneDx. The following papers will be presented:

"We are excited to continue expanding our list of customers and collaborators for WaferGen's Next-Generation Sequencing (NGS) sample prep products. At ASHG, we will showcase a full suite of NGS solutions designed to streamline and accelerate clinical research and routine patient testing. WaferGen will introduce an expanded portfolio of protocols on the Apollo 324, a compact and flexible NGS library prep system that enables rapid and full walk-away automation of a wide variety of NGS and molecular diagnostics applications. The Apollo 324 is ideal for clinical whole genome and whole exome sequencing. By combining Apollo 324 with WaferGen's Seq-ReadyTE System, an innovative one-step target enrichment and library preparation solution ideal for custom gene panels, WaferGen addresses the critical need of clinical labs for easy-to-use and cost effective workflows," said Ivan Trifunovich, President and Chief Executive Officer of WaferGen.

The American Society of Human Genetics 64th Annual Meeting will take place on Saturday, October 18 to Wednesday, October 22 at the San Diego Convention Center. WaferGen will be exhibiting their NGS solutions in Booth #222. For more information and registration, please see http://www.ashg.org/2014meeting/.

About WaferGen

WaferGen Bio-systems, Inc. is a life science company that offers innovative genomic solutions for clinical testing and research. The SmartChip MyDesign Real-Time PCR System is a high-throughput genetic analysis platform for profiling and validating molecular biomarkers via microRNA and mRNA gene expression profiling, as well as single nucleotide polymorphism (SNP) genotyping. The SmartChip TE System is a novel product offering for target enrichment geared towards clinical Next-Gen sequencing (NGS). The Seq-Ready TE System, powered by SmartChip massively-parallel single-plex PCR technology, is an innovative one-step target enrichment and library preparation solution. The Company now also offers the Apollo 324 product line used in library preparation for NGS. These three complementary technologies offer a powerful set of tools enabling more accurate, faster and cheaper genetic analysis based on Next-Gen Sequencing and Real-Time PCR.

For additional information, please see http://www.wafergen.com

Investor Contacts: ICR, Inc. Bob Yedid bob.yedid@icrinc.com 646-277-1250

WaferGen Bio-systems, Inc. Ivan Trifunovich ivan.trifunovich@wafergen.com (510) 651-4450

SOURCE WaferGen Bio-systems, Inc.

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Versatility of WaferGen Bio-systems Next-Gen Sequencing (NGS) Sample Prep Solutions to Be Showcased at the American ...

San Francisco, California (PRWEB) October 14, 2014

Global clinical laboratory services market is expected to reach USD 261.42 billion by 2020, according to a new study by Grand View Research, Inc. The demand for early diagnosis in order to render effective therapeutic interventions is on a constant rise. Wide range of diagnostic tests encompassed in the clinical laboratory services segment coupled with increasing incidence rates of infectious and chronic diseases is expected to drive market growth during the forecast period. In addition, presence of untapped growth opportunities and the rapidly improving healthcare infrastructure in emerging markets such as China, India and Brazil are expected to offer growth opportunities for industry participants.

View full report with TOC at http://www.grandviewresearch.com/industry-analysis/clinical-laboratory-services-market

Clinical chemistry based services dominated the overall market, accounting for over 45.0% of the revenue share in 2013, owing to the fact that these tests are a part of the initial disease diagnostic process and thus are carried out in large volumes.

Request free sample of this report at http://www.grandviewresearch.com/industry-analysis/clinical-laboratory-services-market/request

Further key findings from the study suggest:

Browse all reports of this category at http://www.grandviewresearch.com/industry/clinical-diagnostics

For the purpose of this study, Grand View Research has segmented the global clinical laboratory services market on the basis of test type, service provider and region:

Browse all upcoming reports by Grand View Research at http://www.grandviewresearch.com/ongoing-reports

About Grand View Research

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Clinical Laboratory Services Market By Test (Human & Tumor Genetics, Clinical Chemistry), By Service Provider ...

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Vast stores of DNA samples and data have been produced by the increasing pace of genetic sequencing.

Early last year, three researchers set out to create one genetic data set to rule them all. The trio wanted to assemble the worlds most comprehensive catalogue of human genetic variation, a single reference database that would be useful to researchers hunting rare disease-causing genetic variants.

Unlike past big data projects, which have involved large groups of scientists, this one deliberately kept itself small, deploying just five analysts. Nearly two years in, it has identified about 50million genetic variants points at which one persons DNA differs from anothers in whole-genome sequence data collected by 23other research collaborations. The group, called the Haplotype Reference Consortium, will unveil its database in San Diego, California, on 20October, at the annual meeting of the American Society of Human Genetics.

Geneticists have not always been so willing to share data. But that seems to be changing. Its been surprisingly easy to bring all these data sets together, says Jonathan Marchini, a statistical geneticist at the University of Oxford, UK, and one of the consortiums leaders. There is a lot of goodwill between the people in the field; they all understand the benefits of doing this and have worked hard to make their data available.

In the past five years, there has been an explosion in rates of sequencing human genomes thanks to the falling cost of the technology. At the same time, geneticists have realized that linking genes to diseases and traits will require much bigger sample sizes than any one research centre can assemble.

It was once assumed that common diseases and traits could be traced to a few common genetic variants that would be relatively easy to find. But that has turned out not to be the case. It is now clear that thousands of different variants each play a small part in determining a persons height or risk of schizophrenia, for example. And finding those thousands of variants means looking at a daunting number of people. At the same time, the increased pace of genetic sequencing has made it possible to collect enough genomes to uncover those variants.

Here are a bunch of data sets that individually cost millions of dollars to generate, and you have people willing to make that data available to a shared resource, which is amazing, says geneticist Daniel MacArthur of Massachusetts General Hospital in Boston.

MacArthur is part of the Exome Aggregation Consortium, another attempt to create a supersized library of human genetic variation. On 20October, MacArthur and his colleagues plan to unveil their own public database containing the protein-coding portions, or exomes, of 63,000 human genomes originally gathered by other researchers. We can say from looking at a very large cohort of peoplethis is what the distribution of rare variation looks like, says MacArthur. And that is very powerful.

MacArthur is developing tools to comb the data for mutations that disable genes. Only some of these loss-of-function mutations cause harm; predicting which are pathogenic will require knowing more about which ones regularly occur in healthy people.

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Giant gene banks take on disease

Human genetics : gel electrophoresis

By: Petchploy Rungkamoltip

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Human genetics : gel electrophoresis - Video

Human Genetics Molecular Biology of Gene
Human Genetics Molecular Biology of the Gene.

By: GEBRI usc

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Human Genetics Molecular Biology of Gene - Video

PUBLIC RELEASE DATE:

9-Oct-2014

Contact: Kevin Jiang kevin.jiang@uchospitals.edu 773-795-5227 University of Chicago Medical Center @UChicagoMed

The National Institute on Drug Abuse (NIDA) has awarded the University of Chicago a $12 million, five year grant to establish a national Center of Excellence to study drug abuse-associated behaviors by conducting research with rats.

Led by Abraham Palmer, PhD, associate professor of human genetics, the NIDA Center for Genome-Wide Association Studies in Outbred Rats will combine complex behavioral studies with recent technological advances in rat genetics to help scientists shed light on the genes behind drug addiction.

Rats have a long and storied history as an important animal model for research, especially in behavioral studies. But in recent decades, the use of rats has given way to mice because of innovations in the manipulation of mouse genomes. This shift has affected certain research fields, particularly the study of drug abuse and addiction, where behavioral tasks are often too complex for mice to perform. That's led to a slowdown in research aimed at revealing the genetics thought underlie drug abuse-related behaviors.

"The odds of permanently recovering from drug addiction are low and there is currently very little understanding of why that is," Palmer said. "With an animal system, we have a powerful advantage in that once we've found a genetic location or pathway, we can easily manipulate the gene and measure the resulting effects. The use of rats is critical because many of the behaviors we will study have proven difficult or impossible to adapt for mice."

A rat revival

To shed light on the genetics behind complex traits such as drug abuse behavior, the researchers will utilize genome-wide association studies (GWAS) an examination of the entire genomes of different individuals to reveal genetic variants linked with particular traits. Research groups around the country will perform experiments exploring separate behaviors, and send samples to UChicago for genetic analysis. This allows the center to study the genetics of multiple aspects of drug abuse efficiently and at a much more rapid pace than previously possible.

While most animal studies use almost genetically identical subjects, GWAS studies require large numbers of unrelated individuals. The center will support a comprehensive breeding program that provides researchers with a unique population of rats that have been bred to maintain as much genetic diversity as possible. Studies will be performed on both male and female rats to explore the relationship between gender, drug abuse behavior and genetics.

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University of Chicago establishes national center to study genetics of drug abuse in rats