Last updated: March 14, 2014
NHGRI Scientists to Showcase Research at Annual American Society of Human Genetics Meeting in Hawaii
The meeting is one of the most anticipated opportunities throughout the year for NHGRI investigators to convene with colleagues in the genomics field from across the nation and around the world. This year's meeting, billed as a rich resource of new information about cutting-edge developments in human genetics and genomics research, will include more than 260 platform and plenary presentations, 2,828 posters and 24 invited sessions and special symposia.
Investigators and staff from NHGRI's Division of Intramural Research and the Office of the Director will play significant roles as organizers, moderators and presenters.
"NHGRI investigators participate in the ASHG annual meeting to report their research contributions in human genetics and genomics and to exchange insights with other geneticists," said NHGRI Scientific Director Eric Green, M.D., Ph.D. "The academic exchange among colleagues has an energizing effect on the research being pursued at NHGRI."
Leslie Biesecker, M.D., chief of NHGRI's Genetic Disease Research Branch, is the program committee chairperson for this year's meeting. Over the past year, the committee has worked to put together the meeting's immense scientific program, which draws upon 23 topic areas, ranging from cancer genetics to cytogenetics, from pharmacogenetics to therapy for genetic disorders. Dr. Biesecker will co-moderate Wednesday's plenary session featuring highlighted research. On Saturday, he will also moderate a special symposium commemorating the 200th anniversary of Charles Darwin's birth and the 150th anniversary of Darwin's seminal publication, On the Origin of Species by Means of Natural Selection.
NHGRI Acting Director Alan E. Guttmacher, M.D., is a participant in the Presidential Symposium on Implementing Personalized Medicine. A panel of six speakers will discuss how the fields of healthcare and medicine will benefit from discoveries made as a result of the Human Genome Project. The symposium will explore the challenges, as well as the progress, in implementing personalized medicine.
A number of other NHGRI researchers will present research and act as moderators in the various sessions described below.
- On Wednesday, NHGRI intramural researchers will present data on the Multiplex Initiative, a study that investigates the interest level of healthy, young adults in receiving genetic testing for eight common conditions, and shows how the information might be used to inform public debate and further research around the practical use of genetic tests. NHGRI Deputy Scientific Director Andy Baxevanis, Ph.D., an investigator on the study, will moderate the session, which will also delve into how participants in the study make use of the risk information, and how results from the genetic tests influence participants' future patterns of healthcare use. NHGRI Social and Behavioral Research Branch (SBRB) Chief Colleen McBride, Ph.D.; SBRB Associate Investigator Barbara Biesecker; and former SBRB investigator Kim Kaphingst, Ph.D., will also present at the session.
- Inherited Disease Research Branch (IDRB) Chief Joan Bailey-Wilson, Ph.D., will co-moderate an invited session called Future Vision: The Search for Genes that Cause Eye Disease. Researchers will discuss current genetic knowledge of a variety of eye disorders and future directions in this field, particularly regarding the goal of preventive screening and early intervention. IDRB Senior Research Fellow Robert Wojciechowski, O.D., will speak about the complex genetics of myopia, or nearsightedness, during this session.
- NHGRI Office of Policy, Communications and Education Acting Director Laura Lyman Rodriguez will moderate an invited session titled Informed Consent for Today's and Tomorrow's Genomics Research. Speakers will give their perspectives on how evolving genomic technologies and complex consent documents are challenging traditional models and expectations for informed consent processes.
- Medical Genetics Branch Associate Investigator Marjan Huizing, Ph.D., and Postdoctoral Research Fellow, Wendy Westbroek will moderate the invited session Genetic Disorders of the Endosomal System. Endosomes are parts of the cell involved in transport. Speakers in this session will present groups of human genetic disorders associated with a specific aspect of the endosomal pathway and the insights that these disorders provide into underlying cellular mechanisms. These cellular insights, in turn, inform rational approaches to therapy.
- On Thursday, Medical Genetics Branch Chief Maximilian Muenke, M.D., will co-moderate a session on Brain Structure, Function and Degeneration.
- Inherited Disease Research Branch Senior Research Fellow Robert Wojciechowski will co-moderate the Statistical Genomics session.
- Social and Behavioral Research Branch Associate Investigator and Education and Community Involvement Branch Chief Vence Bonham, J.D., will co-moderate a session on the Implications in Working with Underserved Communities in the Context of Genetics and Family Health History. This session presents social implications and lessons learned from community based projects conducted in various communities, including Native Hawaiian and Alaska Native communities.
- On Friday, NHGRI Physician Scientist Douglas Stewart, M.D., will co-moderate one of two sessions on genomics, during which NHGRI colleagues from the Genetic Disease Research Branch and NIH Intramural Sequencing Center will present genomic methods and tools to identify rare disorders masquerading as common diseases.
- On Saturday, Inherited Disease Research Branch Co-Chief Alexander Wilson, Ph.D., will co-moderate the session on Genome-wide Association Studies of Diverse Complex Traits.
ASHG is the primary professional membership organization for human geneticists worldwide and represents more than 8,000 researchers, clinicians, genetic counselors and nurses.