Category Archives: Human Genetics

Contact Information

Available for logged-in reporters only

BETHESDA, MD Over 1,500 scientists from 30 countries and 46 states will attend next week's 56th Annual Drosophila Research Conference organized by the Genetics Society of America (GSA), March 48 in Chicago, IL. The conference will feature close to 1,000 presentations (including 170 talks) describing cutting-edge research on genetics, developmental biology, cancer, stem cells, neurology, epigenetics, genetic disease, aging, immunity, behavior, drug discovery, and technology. It is the largest meeting in the world that brings together researchers who use the fruit fly Drosophila melanogaster to study biology.

Of special note are scientists whose achievements in genetics are being honored through awards and special lectures:

The fruit fly Drosophila melanogaster is one of the most versatile and widely used model organisms applied to the study of genetics, physiology, and evolution. Drosophila research has led to some of the most significant breakthroughs in our understanding of biology, including five Nobel prizes. It is an effective system for studying a range of human genetic diseases, ranging from cancer to diabetes to neurodegenerative disorders. Fruit flies are a valuable resource for biomedical research because of the efficiency and cost-effectiveness with which comprehensive, sensitive, and accurate biological data can be generated. Research presented at the Drosophila conference, like that at other GSA conferences, helps advance our fundamental understanding of living systems and provides crucial insight into human biology, health and disease.

The conference will take place at the Sheraton Chicago Hotel & Towers at 301 East North Water Street. The organizers include Gregory J. Beitel, PhD (Northwestern University), Michael Eisen (University of California, Berkeley; Howard Hughes Medical Institute), Marc Freeman (University of Massachusetts Medical School; Howard Hughes Medical Institute), and Ilaria Rebay (University of Chicago). For additional information, please see the conference website athttp://www.genetics-gsa.org/drosophila/2015/.

More information on the importance of Drosophila research: Fruit Flies in Biomedical Research. Michael F. Wangler, Shinya Yamamoto, and Hugo J. Bellen.GeneticsEarly online January 26, 2015

MediaEligibility: The 2015 Drosophila Research Conference is open to media representatives, including those frombona fide print, broadcast, radio, and online venues, and freelance writers on a verifiable assignment from an established news source. Please contactpress@genetics-gsa.orgfor information about complimentary press registration.

* * * About the Genetics Society of America (GSA) Founded in 1931, the Genetics Society of America (GSA) is the professional scientific society for genetics researchers and educators. The Societys more than 5,000 members worldwide work to deepen our understanding of the living world by advancing the field of genetics, from the molecular to the population level. GSA promotes research and fosters communication through a number of GSA-sponsored conferences including regular meetings that focus on particular model organisms. GSA publishes two peer-reviewed, peer-edited scholarly journals: GENETICS, which has published high quality original research across the breadth of the field since 1916, and G3: Genes|Genomes|Genetics, an open-access journal launched in 2011 to disseminate high quality foundational research in genetics and genomics. The Society also has a deep commitment to education and fostering the next generation of scholars in the field. For more information about GSA, please visit http://www.genetics-gsa.org.

9650 Rockville Pike | Bethesda, MD 20814 | 301.634.7300 | press@genetics-gsa.org | http://www.genetics-gsa.org

Read more here:
Disease, Evolution, Neurology, and Drugs: Fruit Fly Research Continues to Teach Us About Human Biology

Human evolution questioned: 'Big brain gene found humans, not chimps'

A single gene may have paved the way for the rise of human intelligence by dramatically increasing the number of brain cells found in a key brain region.

This gene seems to be uniquely human: It is found in modern-day humans, Neanderthals and another branch of extinct humans called Denisovans, but not in chimpanzees.

By allowing the brain region called the neocortex to contain many more neurons, the tiny snippet of DNA may have laid the foundation for the human brain's massive expansion.

"It is so cool that one tiny gene alone may suffice to affect the phenotype of the stem cells, which contributed the most to the expansion of the neocortex," said study lead author Marta Florio, a doctoral candidate in molecular and cellular biology and genetics at the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, Germany.

Still, it's likely this gene is just one of many genetic changes that make human cognition special, Florio said.

An expanding brain

The evolution from primitive apes to humans with complex language and culture has taken millions of years.

Some 3.8 million ago, Australopithecus afarensis, the species typified by the iconic early human ancestor fossil Lucy, had a brain that was less than 30 cubic inches (500 cubic centimeters) in volume, or about a third the size of the modern human brain.

By about 1.8 million years ago, Homo erectus was equipped with a brain that was roughly twice as big as that of Australopithecus.

Read the rest here:
Human evolution questioned: 'Big brain gene found humans, not chimps'

A single gene may have helped pave the way for the rise of human intelligence by dramatically increasing the number of neurons found in a key brain region.

This gene seems to be uniquely human: It is found in modern-day humans, Neanderthals and another branch of extinct humans called Denisovans, but not in chimpanzees.

By allowing the brain region called the neocortex to contain many more neurons, the tiny snippet of DNA may have laid the foundation for the human brain's massive expansion.

This embryonic mouse cerebral cortex was stained to identify cell nuclei (in blue) and a marker for deep-layer neurons (in red). The human-specific gene known as ARHGAP11B was selectively expressed in the right hemisphere: Note the folding of the neocortical surface.

"It is so cool that one tiny gene alone may suffice to affect the phenotype of the stem cells, which contributed the most to the expansion of the neocortex," said study lead author Marta Florio, a doctoral candidate in molecular and cellular biology and genetics at the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, Germany.

She and her colleagues found that the gene, called ARHGAP11B, is turned on and highly activated in the human neural progenitor cells, but isn't present at all in mouse cells. This tiny snippet of DNA, just 804 genetic bases long, was once part of a much longer gene. Somehow, this fragment was duplicated, and the duplicated fragment was inserted into the human genome.

In follow-up experiments, the team inserted and turned on this DNA snippet in the brains of mice. The mice with the gene insertion grew what looked like larger neocortex regions.

The researchers reviewed a wide variety of genomes from modern-day and extinct species confirming that Neanderthals and Denisovans had this gene, while chimpanzees and mice do not. That suggests that the gene emerged soon after humans split off from chimpanzees, and that it helped pave the way for the rapid expansion of the human brain.

Florio stressed that the gene is probably just one of many genetic changes that make human cognition special. [The Top 10 Things That Make Humans Special]

The gene was described in a paper published online Thursday by the journal Science.

Follow this link:
'Big Brain' Gene Found in Humans, But Not in Chimps

A better understanding of genetics role in mental illness will lead to better treatments, according to scientists who participated Thursday in the Massachusetts General Hospital Leadership Council for Psychiatrys ninth annual mental health symposium.

Scientists first identified genetic risk factors related to mental disorders about six years ago, said Dr. Jordan Smoller, director of the psychiatric and neurodevelopmental genetics unit in the hospitals Center for Human Genetics Research. Since then, nearly 200 genetic risk factors have been confirmed, Smoller said.

Genetic markers overlap in five disorders bipolar, schizophrenia, depression, attention deficit hyperactivity disorder and autism, Smoller said.

Were seeing some of these connections and the hope is (that) were going to be able to move towards a diagnostic system that is not simply based upon symptoms but on an understanding of the underlying mechanisms of mental illness, he said.

Another speaker, Dr. Sabine Wilhelm, chief of psychology, discussed body dysmorphic disorder.

About 2 percent of Americans have the condition, Wilhelm said. People with the disorder are preoccupied with a perceived flaw or flaws in their appearance. This intense focus on appearance is linked with an increased risk of depression and/or anxiety. People with the condition are 45 times more likely to commit suicide than the general population, she said.

High doses of serotonin reuptake inhibitors can help alleviate the disorder, though the medication takes at least six weeks to work, Wilheim said. That drug is often used in conjunction with cognitive behavior therapy designed to pull a patients focus away from the perceived flaw and to boost his or her self-esteem, she said.

Parents can help children avoid the disorder by communicating positive comments about their own bodies, Wilhelm said.

Dont make make major comments about wrinkles and scars, things like that, Wilhelm said. She urges parents to be careful how they talk to their kids about their looks.

It is important to compliment girls for their academic and athletic prowess, rather than focus on their physical beauty, she said.

Go here to read the rest:
Symposium: Genetics role in mental illness key to better treatments

Menu 14 Review - Human Genetics
This video is a synopsis of chapter 14 and highlights the major topics: karyotypes, genetic diseases, pedigree analysis, sex-linked traits, and nondisjunction.

By: MrDBioCFC

See more here:
Menu 14 Review - Human Genetics - Video

Baylor College of Medicine experts will give an update on the latest research and best practices in medical care for Marfan syndrome, a genetic disorder of connective tissue that affects the skeletal system, cardiovascular system, eyes, and skin, in a public forum Feb. 17at the Childrens Museum of Houston.

The forum will feature Dr. John Belmont, professor of molecular and human genetics at Baylor and a pediatric geneticist at Texas Childrens Hospital; Dr. Shaine Morris, assistant professor of pediatrics at Baylor and a pediatric cardiologist at Texas Childrens Hospital; Andi Lewis, a genetic counselor at Baylor and Texas Childrens Hospital; Judy Gibaldi, acting president and CEO of The Marfan Foundation and Rod Gray, a parent advocate.

The experts will discuss results of a recent large study, as well as best practices in medical care and resources regarding Marfan Syndrome.

Sponsored by Baylor and Texas Childrens, the event is part of the monthly Evening with Genetics lecture series organized by Baylors Department of Molecular and Human Genetics. The series offers current information regarding care, education and research about genetic disorders.

The program is free and open to the public. It will be held at 7 p.m. at the Childrens Museum of Houston, 1500 Binz, 77004. For more information, contact Susan Fernbach at 832-822-4280 or fernbach@bcm.edu or visit the registration page at http://www.bcm.edu/eveninggenetics. Registration is required.

Continue reading here:
Marfan syndrome: medical care and research update focus of monthly genetic series

ALAMEDA, Calif.--(BUSINESS WIRE)--LifeMap Sciences, Inc. (LifeMap), a subsidiary of BioTime, Inc., announced today a commercial partnership agreement with Toldot Genetics, LTD (Toldot), a subsidiary of BATM Advanced Communications, Ltd. LifeMaps GeneCards Suite, comprised of the companys integrated biomedical knowledgebase and premium analysis tools, will optimize Toldots next generation sequencing (NGS) data analysis capabilities by powering its algorithm-based tools for assigning genetic variations derived from whole genome and exome sequencing, to clinical conditions in order to improve biomedical research. LifeMap will also promote Toldots products and offer them to its large user base of life scientists in academia, research hospitals, and biopharma.

LifeMap Sciences extensive integrated biomedical knowledgebase will further expand Toldots analysis systems in order to contribute to the ability to get the most of unprecedented quantities of gene-related data derived from NGS experiments, said Yaron Guan-Golan, Chief Marketing Officer of LifeMap Sciences. Our partnership with Toldot Genetics reflects the flexibility of our technology to enhance biomedical research and discovery.

We believe that combining LifeMaps comprehensive biomedical knowledgebase and advanced analysis tools with Toldots proven ability to extract the most relevant information out of large amounts of sequencing data will create the best NGS analysis package available on the market today, said Dvir Dahary, CEO of Toldot Genetics. This partnership will assist in the discovery of novel clinical and scientific insights.

LifeMaps cloud-based technology offers unlimited access to users who wish to use its integrated biomedical knowledgebase and premium tools VarElect and GeneAnalytics for NGS data analysis. The company is also offering partners who are developing and commercializing NGS analysis platforms access to its integrated knowledgebase and tools under various business arrangements.

Both VarElect and GeneAnalytics are part of LifeMap Sciences recently launched GeneCards Suite Premium Tools. The tools leverage the LifeMap integrated biomedical knowledgebase, which includesGeneCards, the leading human gene database, MalaCards, the human disease database, andLifeMap Discovery, the cells and tissues database. LifeMap holds the exclusive worldwide license to marketGeneCards,MalaCards, VarElect, GeneAnalytics and GenAlaCart from Yeda Research and Development Company Ltd., the commercial arm of the Weizmann Institute of Science.

About LifeMap Sciences, Inc.

LifeMap Sciences (www.lifemapsc.com) is a life sciences technology company that offers integrated, streamlined solutions that empower life scientists worldwide to conduct cutting edge basic, clinical, and applied biomedical research.LifeMaps products are used in more than 3,000 institutions including academia, research hospitals, patent offices, and leading biopharma. The companys primary product offering, the GeneCards Suite, is comprised of an integrated biomedical knowledgebase and premium tools that enable researchers to effectively navigate the universe of human genes, proteins, cells, biological pathways, diseases, and the relationships between them. The knowledgebase includes three key databases that integrate information from over 100 sources: GeneCards, the leading human gene database, MalaCards, the human disease database, and LifeMap Discovery, the cells and tissues database. The GeneCards Suite premium tools are a set of biomedical data analysis applications that leverage the GeneCards Suite knowledgebase for gene variant prioritization and RNAseq and microarray gene set analysis to deliver enhanced results, including from the unprecedented quantities of data derived from Next Generation Sequencing (NGS). The premium tools include VarElect, the NGS phenotyper,GeneAnalytics, a novel gene set analysis tool, and GeneALaCart, the GeneCards batch querying application. LifeMap Sciences intends to extend its offerings to the field of mobile health via its subsidiary,LifeMap Solutions, Inc. Operations worldwide are carried out from their offices in California, Massachusetts, New Jersey, Tel Aviv and Hong Kong. LifeMap is a subsidiary of BioTime, Inc.

About Toldot Genetics Ltd.

Toldot Genetics (www.toldot-dna.com) improves healthcare through the use of whole genome sequencing, developing and applying sophisticated algorithm-based tools and approaches to assign genetic variations to clinical conditions. Toldot provides geneticists and physicians with a complete analysis package of Exome sequencing data for identifying the causal mutations of rare genetic disorders. Pharma and BioTech companies use Toldot's services in their clinical pipelines, from the design and all the way to deep analysis of their sequencing data, exclusively tailored for the requirements of each project, incorporating gold-standard tools with in-house algorithms and software.

About BATM Ltd.

Visit link:
LifeMap Sciences Partners with Toldot Genetics to Support Next Generation Sequencing Variant Analysis Commercialization

By inserting bits of human DNA into mice, scientists were able to make their brains develop more rapidly and ultimately grow bigger in the womb. The study, published in Current Biology, suggests that the evolution of this gene may be one of the things that sets us apart from our close relatives in the primate world.

Human brains are unique, even when compared with our close genetic relatives, such as chimpanzees. Our brains are about three times heavier than those of our cousins, and are more complex and interconnected as well.

It's generally accepted that these neurological differences are what allowed us to evolve the higher brain function that other primates lack. But just what genetic changes allowed humans to surpass chimps in the brain arena is one that's still being answered.

There are a lot of physical differences to examine more closely, but size is such a dramatic one that the authors of the new study chose to start there.

Using databases developed by other labs, the Duke University scientists cross-checked areas of human DNA that had developed differences from chimp DNA with areas of DNA they expected to be important for gene regulation. Regulator genes help determine how other genes will express themselves, and the researchers suspected that some of these regulators might be making brain development more active in human embryos than in chimps.

They ended up focusing on a region called HARE5 (short for human-accelerated regulatory enhancer), which testing indicated had something to do with brain development. They suspected that the enhancer, which is found close to a molecular pathway important in brain development, might have changed in a way that influenced brain size in humans.

We discovered that the human DNA sequence, which only had 16 changes in it compared to the chimp sequence, was being expressed differently in mice, said study author Debra Silver, an assistant professor of molecular genetics and microbiology in the Duke University Medical School.

In fact, HARE5 was regulating how many neural stem cells the precursors of brain cells a mouse embryo could produce.

The human DNA was really able to accelerate the way the stem cells divide, Silver said. And as a result, the mice were able to produce more neurons.

The brains of these genetically modified mice grew 12 percent bigger than ones given the chimpanzee version of HARE5.

Go here to read the rest:
Gene making human brains bigger found

Chennai, February 22:

Geneticist Eric Steven Lander who pioneered the general principles for identifying human disease genes and their application to medicine will deliver a lecture in Chennai on Wednesday as part of the Cell Press-TNQ India Distinguished Lectureship Series 2015.

Lander will talk on The Human Genome and Beyond: A 35-year journey of genomic medicine, on February 25, at 6.00 pm at the Sir Mutha Venkatasubba Rao (Lady Andal) Auditorium. N Ram, Chairman and Publisher of The Hindu Group of publications will introduce the speaker, said a press release from the organisers.

Lander who was appointed by US President Barack Obama in 2008 to co chair the US Presidents Council of Advisors on Science and Technology is concurrently Professor of Biology at MIT and Professor of Systems at the Harvard Medical School.

The mathematician turned biologist turned geneticist was one of the principle leaders of the Human Genome Project which mapped the human genetic code between 1990 and 2003.

Cell Press, based in Cambridge, Massachusetts, is an imprint of Elsevier Press which publishes 31 highly cited journals. The Chennai-based TNQ delivers pre publishing services and publishing solutions.

(This article was published on February 22, 2015)

Read the original post:
Genetics guru to lecture in Chennai

Contact Information

Available for logged-in reporters only

Newswise Bethesda, MD, February 20, 2015:

The Association for Molecular Pathology (AMP), the premier global, non-profit organization serving molecular laboratory professionals today presented at the U.S. Food and Drug Administration public workshop, Optimizing FDAs Regulatory Oversight of Next Generation Sequencing Diagnostic Tests, outlining specific ways that FDA could best facilitate innovation of precision medicine. The purpose of the workshop is to discuss and receive feedback from the community on FDAs regulatory approach to diagnostic tests for human genetics or genomics using NGS technology.

A number of AMP members participated in the workshop today, including Roger D. Klein, MD, JD, Chair, AMP Professional Relations Committee who presented recommendations for FDAs role in assuring safe and effective NGS diagnostic tests. Our members are among the early adopters and users of next-generation sequencing (NGS) in a clinical setting, and have accumulated substantial knowledge and expertise as it relates to this novel and powerful technology, said Dr. Klein. On behalf of the many medical professionals who design, develop, perform, interpret, and communicate the results of clinical implications of these valuable diagnostic processes, we urge the FDA to consult with NGS experts and professional organizations in constructions of standards for NGS products.

AMPs oral comments emphasized four key points:

1. FDA can best contribute to patient care and public health by helping to ensure the performance characteristics of NGS products sold to customer laboratories. 2. FDA should partner with outside organizations and experts to set standards for FDA-cleared or approved products and to assist in development of recommendations and practice guidelines for clinical laboratories engaging in NGS testing. 3. The College of American Pathology (CAP), The American College of Medical Genetics and Genomics (ACMG), the Clinical Laboratory Standards Institute (CLSI), and other organizations have already produced laboratory accreditation requirements and practice guidelines that are used to ensure high-quality performance of NGS tests. 4. Although NGS represents a fairly new technology, the operational, validation and quality control procedures of the majority of medical NGS assays are extensions of those generally accepted for older technologies.

Furthermore, AMP points out that while they recommend FDA develop guidelines to safeguard proper performance of NGS products, they do not believe FDA has either the authority or the justification to regulate NGS beyond the instruments, software, test kits and reagents sold to customer laboratories. The interpretation and use of the genetic information derived from NGS diagnostic tests is at the heart of what we and ordering providers do, said Andrea Ferreira-Gonzalez, PhD, Chair of AMPs NGS Working Group. As these activities are central to the practice of medicine, they must remain outside the purview of FDA.

AMPs oral comments are available here: http://www.amp.org/advocacy/documents/AMPNGSMeetingcommentsFinalDraft.pdf

AMP plans to submit detailed written recommendations and comments to FDA on March 20, 2015.

Here is the original post:
AMP Delivers Oral Comments at FDA Workshop on Optimizing Regulatory Oversight of Next Generation Sequencing Diagnostic ...