Category Archives: Human Genetics

BAR HARBOR Edison Liu, M.D. has filled top leadership positions across the globe while gaining encyclopedic knowledge of cancer pathology, human genetics and medical science. But one year into his term as president and CEO of the Jackson Laboratory, Dr. Liu has become known for something decidedly artistic; the good doctor is actually one heck of a piano player.

Music runs strong through Dr. Lius life, from his childhood in California, through his recent, decade-long stint as the founding executive director of the Genome Institute of Singapore. It didnt take long for others at the lab to take notice of his skills. A monthly pick-up session in Roscoes, the labs cafeteria, soon developed, with Dr. Liu taking the lead on the house piano.

Theres only one prerequisite to play, Dr. Liu told the Islander in a wide-ranging interview this week, and that is an adherence to what he calls sincere art. In other words, you may not be very good, but you have to be very sincere.

When filtered through Dr. Lius impressive intellect, those monthly jam sessions resonate with meaning. Music, he said, provides alternative communication pathways, ones that are able to break through much of the stalemate that can develop out of modern life. Musical sincerityis the closest thing to truth that I know of, he said.

There is a different etiquette, an opening of different portals into the heart, Dr. Liu said. And the more pathways we have into each others souls, the closer community we have.

A search for those pathways defines Dr. Lius leadership style and traces the arc of his career. From the time he was five years old, he wanted to be a physician, just as his parents were. But just as music, and the great literature that Dr. Liu also loves, tells a sometimes unexpected story, so, too, has Dr. Lius path in life.

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Jackson Lab CEO Leads From Heart

Newswise Bethesda, MD -- (September 6, 2012) Mary Gehring, Ph.D., of the Whitehead Institute and the Massachusetts Institute of Technology (MIT), and Valerie Horsley, Ph.D., of Yale University are the 2013 recipients of the Rosalind Franklin Young Investigator Awards funded by The Gruber Foundation and administered by the Genetics Society of America (GSA) and the American Society of Human Genetics (ASHG). Dr. Gehring received the award for her research in imprinting and epigenetic regulation in Arabidopsis, and Dr. Horsley for her studies of the epithelial stem cell niche delineated by mouse genetic models. Each of the recipients will receive a $75,000 (USD) award administered over three years ($25,000 per year).

The recipients were selected from among early career female applicants from all over the world. Their work and goals reflect the spirit and dedication of British scientist Rosalind Franklin, for whom the award is named. Their originality, scientific creativity and seminal discoveries within their fields, exemplify the innovative thinking Franklin used while working to determine the structure of DNA in the early 1950s.

The Rosalind Franklin Award honors a founder of modern genetics by honoring the achievements of her academic granddaughters. For those of us with the privilege of selecting the Rosalind Franklin Award winners, this is one of our most joyful and challenging tasks. The depth and breadth of accomplishments of this year's nominees are extraordinary. We congratulate the winners and welcome them as our colleagues and sisters in science, said Mary-Claire King,President, American Society of Human Genetics, and Chair, 2013 Rosalind Franklin Award Committee.

Dr. Gehring, now a member of the Whitehead Institute for Biomedical Research and an assistant professor of biology at MIT, has a bachelors degree from Williams College (Williamstown, Massachusetts) and worked with Robert L. Fischer, Ph.D., at the University of California, Berkeley, for her Ph.D. She was a postdoctoral researcher in the lab of Steven Henikoff, Ph.D., at the Fred Hutchinson Cancer Research Center in Seattle. Dr. Gehring is awarded the Rosalind Franklin Young Investigator Award based on her work in Arabidopsis on epigenetic processes, on the evolution and mechanisms of imprinting, on the fidelity of epigenetics inheritance between generations, and on the comparative genetics of imprinting among species. Her work deepens our understanding of the developmental program in plants and is likely to reveal shared features of methylation across plants and animals. This demonstrates a profound impact that foundational research can have on our understanding of epigenetics.

Dr. Horsley earned her undergraduate degree from Furman University (Greenville, South Carolina), her doctoral degree from Emory University, where she worked with Grace Pavlath, Ph.D., and did her postdoctoral research at Rockefeller University with Elaine Fuchs, Ph.D., on mechanisms of stem cell lineage commitment and quiescence. She is now the Maxine F. Singer 57, Ph.D. assistant professor of molecular, cellular and development biology at Yale University. Dr. Horsley receives the Rosalind Franklin Young Investigator Award for her accomplishments in the genetic dissection of the regulation of skin stem cells, and for her elegant and groundbreaking independent work using a genetic approach to characterize the role of adipocyte cells in the skin stem cell niche.

Drs. Gehring and Horsley will be acknowledged at the 62nd ASHG Annual Meeting in San Francisco, on Friday, November 9, 2012, in conjunction with the Gruber Genetics Prize presentation.

The Rosalind Franklin Young Investigator Awards were developed by The Gruber Foundation to support and inspire the next generation of women in genetics. Two early career female scientists are selected every three years as recipients of these awards. One award is for research in genetics of humans and other mammals, and one award is for research in genetics of other model organisms. Recipients must be within their first three years of an independent research position in any area of genetics.

"All of us at The Gruber Foundation derive profound satisfaction from the announcement of the top two young women investigators who are named Rosalind Franklin awardees each three years. We take particular pleasure this year in welcoming Dr. Mary Gehring, and Dr. Valerie Horsley to a growing roster of cutting-edge women scientists. We thank the dedicated committee members at the American Society for Human Genetics, and the Genetics Society of America for their diligence and commitment, knowing that the numbers of stunningly brilliant young women doing breakthrough science make the selection challenging," said Patricia Gruber, co-founder and president emeritus of The Gruber Foundation.

Applications were reviewed by a distinguished committee that included past recipients of the Rosalind Franklin Award and members of both the GSA and ASHG. The committee, which was chaired by ASHG President Mary-Claire King, Ph.D., University of Washington, Seattle, also included Sally Camper, Ph.D., University of Michigan Medical School, Ann Arbor; Mary Lou Guerinot, Ph.D., Dartmouth College, Hanover, New Hampshire; Ruth Lehmann, Ph.D., New York University; Trudy Mackay, Ph.D., North Carolina State University in Raleigh; and Cynthia Morton, Ph.D., Brigham & Womens Hospital, Boston, Massachusetts. Past Rosalind Franklin Award recipients on the review committee were Amy Pasquinelli (2004), Ph.D., University of California, San Diego; Molly Przeworski (2007), Ph.D., University of Chicago, Illinois; Iiris Hovatta (2010), Ph.D., University of Helsinki, Finland; and Jue D. Wang (2010) Ph.D., Baylor College of Medicine, Houston, Texas.

ABOUT THE GENETICS SOCIETY OF AMERICA: Founded in 1931, the Genetics Society of America (GSA) is the professional membership organization for scientific researchers, educators, bioengineers, bioinformaticians and others interested in the field of genetics. Its nearly 5,000 members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level. The GSA is dedicated to promoting research in genetics and to facilitating communication among geneticists worldwide through its conferences, including the biennial conference on Model Organisms to Human Biology, an interdisciplinary meeting on current and cutting edge topics in genetics research, as well as annual and biennial meetings that focus on the genetics of particular organisms, including C. elegans, Drosophila, fungi, mice, yeast, and zebrafish. GSA publishes GENETICS, a leading journal in the field and a new online, open-access publication, G3: Genes|Genomes|Genetics. For more information about GSA, please visit http://www.genetics-gsa.org. Also follow GSA on Facebook at facebook.com/GeneticsGSA and on Twitter @GeneticsGSA.

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2013 Rosalind Franklin Young Investigator Awards Announced

10-07-2012 06:34 CLICK HERE TO WATCH THE LATEST UPDATED VIDEO THAT CAME OUT TODAY Subscribe To Get Notified Of The Latest Releases As They Come Out Date: 07-09-12 Host: George Noory Guests: Bryan Sykes, Seth Shostak Professor of Human Genetics at the University of Oxford since 1997, Bryan Sykes, discussed some of his fascinating DNA research findings, including his study of American genetics. The United States' population contains a convergence of DNA from a number of continents, with interesting crossovers such as some African Americans having European genes. According to earlier research (not done by Skyes), Native Americans actually originated from Siberia, China, and even Europe, but the DNA blood testing that yielded these results was done without their consent, and thus raised controversy and ire, he detailed. Interestingly, some people from Britain have been found to have Native American genes, he added. Sykes described his work on the "Seven Daughters of Eve." Astonishingly, almost everyone in Europe has mitochondrial (maternal) DNA they inherited from one of seven actual women who lived between 10000 and 45000 years ago. Additionally, there are "36 maternal ancestors spread throughout the world," he noted. It's suspected that Genghis Khan also established a legacy, with his particular Y chromosome shared among some 15 million males in Asia. The Y (male) chromosome in general has been subject to more degeneration and mutation than the X (female ...

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DNA Research - 07-09-2012 - Video

31-05-2012 11:39 So after a brief comment exchange with equestions, I noticed this video, and felt I had to respond. Video in question: Deletions in mice: Marcelo A. No´brega, Yiwen Zhu, Ingrid Plajzer-Frick, Veena Afzal & Edward M. Rubin (2004). Megabase deletions of gene deserts result in viable mice. Nautre. 431. 988-993. Gene Duplications: Celeste J. Brown,Kristy M. Todd,and R. Frank Rosenzweig (1998). Multiple Duplications of Yeast Hexose Transport Genes in Response to Selection in a Glucose-Limited Environment. Mol. Biol. Evol. 15(8):931--942. 1998 Austin L. Hughes. Adaptive evolution after gene duplication. TRENDS in Genetics Vol.18 No.9 Yuval Itan, Kevin Bryson,and Mark G. Thomas (2010). Detecting Gene Duplications in the Human Lineage. Annals of Human Genetics, 74555--565. Adriano Marchese , Timothy V. Beischlag, Tuan Nguyen, Hyman B. Niznik,Richard L. Weinshank , Susan R. George and Brian F. O'Dowd (1995). Two gene duplication events in the human and primate dopamine D5 receptor gene family. Gene, 154, 153-158 Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke Jansen,Martine Raynaud, Karen Hollanders,Dorien Lugtenberg,Thierry Bienvenu, Lars Riff Jensen, Jozef Ge´cz (2005) Claude Moraine,4 Peter Marynen,2 Jean-Pierre Fryns,1 and Guy Froyen2. Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males. Am. J. Hum. Genet. 77:442--453, Sarah A Teichmann & M Madan Babu (2004). Gene regulatory ...

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Replying to Equestions on Junk DNA - Video

06-09-2012 00:11 Google Tech Talk July 12, 2012 Presented by Ewan Birney. ABSTRACT Since the publication of the human genome in 2001, there has been a fundamental shift in molecular biology research from small scale, hypothesis focused science to larger scale hypothesis generating science. I will describe some of the key components of the last decade's research in this area, including Genomewide Association, the 1000 genomes project and the ENCODE project and the way these projects draw on cutting edge statistics and algorithm processes. I will then describe the current excitement in applying this to medical issues, with speculation about how the next decade will develop in genome medicine. About the Speaker Dr. Birney is Associate Director of the EMBL-EBI. Before taking up his current post, he developed a number of databases (such as Ensembl), and worked on specific genomics projects, ranging from the Human Genome sequencing in 2000 through to the ENCODE project. For ENCODE he coordinated the analysis for both the 1% Pilot (published in 2007) and the scale up (likely to be published in 2012). As Associate Director, Dr Birney takes a strategic oversight role of the EBI services alongside Rolf Apweiler (the other Associate Director of the EBI). This ranges from genome sequences through proteins, small molecules, macromolecular structures to networks, pathways and systems. Dr Birney still runs a research group which focuses on genomic algorithms and studying inter individual differences, in ...

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Human Genetics and Genomics: The Science for the 21st Century - Video

06-09-2012 11:00 ??? Enjoy the video? Subscribe! ??? Download Here: What is The Hidden? "In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of British scientists working at an Infinitum Research experimental station stumbled across some remarkable phenomena involving DNA manipulation. This led to deeper research with dangerously unpredictable results, often leading to human patients losing their lives in irresponsible and immoral experiments. Time passed on, and by the mid 1990s the failure rate of the experiments had been reduced from 75% to a mere 15%, enough for Infinitum to move onto the next stage Biological Light Refraction. The British team were hoping to unravel the possibilities of light manipulation to create the perfect covert military agent. Early into the new millennium, due to a gross miscalculation, a series of tests on Subject 617 led to a massive synaptic trauma leaving the patient with multiple genetic anomalies. The subject was left in constant pain and with unstable DNA. The subject escaped captivity, killing anyone that got in its way. The IRIS (Infinitum Research Interception Squad) team have been deployed to return the subject to a maximum security Infinitum Research facility for further study and dissection. The entire project was considered a failure: all funding ceased and development was discontinued while all records and traces of the experiments ...

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SCARY GHOST ENCOUNTER! (The Hidden) - Video