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ASHG Annual Meeting: Beantown becomes Genetown
September 2013
by Jeffrey Bouley  |  Email the author


BOSTON—Although the focus of the 63rd annual meeting of the Bethesda, Md.-based American Society of Human Genetics (ASHG) being held in Boston Oct. 22-26 is, like most such conferences, overwhelmingly focused on educational aspects and scientific achievements, this year marks a strong shift toward encouraging more communication and interaction as well.  
"We're really trying to spur more interaction between members attending the annual meeting, particularly between the older members and the younger ones," says Joseph McInerney, the ASHG's executive vice president. "One of the things we're doing is that we will have a welcome reception in the exhibit hall, and it will be on a different night, Wednesday, which is a day later than in the past when it was called the opening mixer, to encourage more interaction among all the members."  
The welcome reception is open to all scientific registrants, exhibitors and paid guests and "offers an atmosphere in which attendees can become acquainted with new colleagues or reacquainted with former colleagues," ASHG notes. The date and location were changed this year in part because the ballroom space at the headquarters hotel was too small, but also to provide dedicated time to network with colleagues sharing similar scientific interests and to provide additional time to visit the exhibits.  
"We're also providing an opportunity for our speakers, the plenary speakers in particular, to spend time in our exhibit booth, ASHG Central, in the main area of the exhibit hall," McInerney explains. "This is an opportunity for everyone—but in particular we hope for younger members—to speak to these people at designated times. What usually happens after any kind of talk at the meeting is that people queue up to speak with the presenter, and that often doesn't work out because presenters often have somewhere else to go right after, or there is another event scheduled right afterward."  
Speakers are being asked to spend 45 minutes to an hour at ASHG Central, and they have been encouraged to bring along their collaborators as well if possible, McInerney says. ASHG has also asked that at least one member of the society's Program Committee be present as well in case meeting attendees want more information about the context of the presentation, such as why it was chosen as plenary session event or why it was deemed notable.  
Another addition to this year's programming is a session called "ASHG Next," which is a part of the society's strategic planning process.  
"We want to get a sense from membership on their views of the future of ASHG and provide better membership services," McInerney says. "It's an hourlong session that will be focused on three or four questions with respect to the future of the society, and we'll have an audience response system so that attendees can provide feedback to the questions."  
ASHG Next will be held on Thursday, Oct. 24, from 6:45 p.m. to 7:45 p.m. and will feature light refreshments, and it will be moderated by Dr. Jeff Murray, the 2013 ASHG president, and Dr. Cynthia C. Morton, the 2014 ASHG president. The audience response system will be handled via mobile devices. In advance of the session, attendees will be able go to the iTunes store, Android Market or Blackberry Market to download the ResponseWare app. They can also go to to participate.  
Yet another novel way to get attendees to interact more is a "matchup activity" that jointly celebrates the 65th anniversary of ASHG, the 60th anniversary of the discovery of the double helix and the 10th anniversary of the completion of the Human Genome Project. As part of this effort, each scientific registrant's badge holds either a genetic discovery or a name associated with such a discovery.  
"The goal is to find your match," McInerney explains. "If you find that person, the both of you can go to ASHG Central to enter your name into a drawing for a free iPad. We'll give away a total of 10 iPads, with one to each person in five matching teams." The announcement of the winners will be made during the ASHG business meeting on Friday, and matched people must be present at that meeting to win.  
The ASHG annual meeting is reportedly the largest human genetics meeting and exposition in the world, and it is expected to attract more than 6,500 scientific attendees, plus nearly 200 exhibiting companies, this year. Abstracts of work submitted for presentation at the annual meeting will be published online as well. The meeting also features a trade show floor that offers attendees the opportunity to view state-of-the-art medical and laboratory equipment, products, services and computer software designed to enhance human genetics research, teaching and consultation.  
The meeting officially begins on Tuesday, Oct. 22 at 5 p.m. with the presidential address by outgoing president Jeff Murray. The address will be immediately followed by the plenary platform session, consisting of six of the highest-scoring submitted abstracts. The scientific program for the following four days will include 21 invited scientific sessions and 45 platform sessions. The plenary session and platform presentation sessions will be comprised of more than 400 presentations drawn from submitted abstracts, and thousands of posters will also be on display.
"Although our society turned 65 this year, it is far from ready for retirement," noted Murray on the ASHG website for the annual meeting. "Our members have led the way as changes in knowledge, technology, policy and education have challenged our mission over the last seven decades. Genetics has never been more central than it is today to the national and international conversations surrounding science and its application in health, law and teaching. But we must ever focus our commitment to being a part of the solution to the changes that confront us. Having an engaged and active membership who create a strategic vision for our future can ensure that we increase in relevance and utility for ASHG in particular and for advancing the good of society in general."


ASHG to maintain NCHPEG's programs  
BETHESDA, Md.—On Aug 5, the American Society of Human Genetics (ASHG) noted that the impending closure of the National Coalition for Health Professional Education in Genetics (NCHPEG), scheduled for Aug. 31, "puts at risk a large, high-quality collection of programs for a broad range of healthcare providers and educators. To help ensure that more than a decade 's worth of effort and investment remains available to the human-genetics community and health professionals, ASHG will assume responsibility for maintaining NCHPEG's website and the resources it contains for a period of at least six months."  
During this six-month period, ASHG's board of directors will consider the society's role in genetics education for health professionals and determine the next steps in the stewardship of the existing programs and NCHPEG website.  
"We regret the closure of NCHPEG and the loss of this contributory and influential group, but we are pleased to be the vehicle for the continued availability of its products," ASHG noted in announcing its plans to carry on the coalition's programming.    
McInerney replaces Boughman as EVP  
BETHESDA, Md.—Spring of this year saw a change in day-to-day leadership at the ASHG, with Joseph McInerney named as the society's executive vice president, a position in which he is responsible for representing the society in its daily affairs, guiding and implementing the broad agenda of the society in consultation with the president and the board of directors and interacting on an ongoing basis with ASHG committees.  
McInerney previously served in an executive capacity for 10 years as executive director of the National Coalition for Health Professional Education in Genetics (NCHPEG), from which he retired in 2010. Prior to that, he was director of the Biological Sciences Curriculum Study, a nonprofit curriculum development group, from 1985 to 1999. He has been an active ASHG member since 1980, serving on and chairing the Information and Education Committee from 1988 to 1999 and 2009 to 2011.  
"We are extremely fortunate to have hired Joe McInerney for this important position," said Dr. Jeff Murray, 2013 president of ASHG and a professor of pediatrics at the University of Iowa. "He is a proven leader who will help guide the society during this period of great change in genomic research, medicine and education."    

ASHG Annual Meeting Locations
Annual meeting sessions and exhibits
Boston Convention and Exhibition Center
415 Summer St., Boston
ASHG headquarters hotel
Westin Boston Waterfront Hotel
425 Summer St., Boston    

Plenary session abstract presentations
  • Whole-exome sequencing of 94 matched brain metastases and paired primary tumors reveals patterns of clonal evolution and selection of driver mutations
  • Pathogenic de- novo SNVs, indels and CNVs in 1,000 children with undiagnosed developmental disorders
  • Chromatin loops and CNVs: The complex spatial organization of the 16p11.2 locus
  • Fine-mapping GWAS followed by genome editing identifies an essential erythroid enhancer at the HbF- associated BCL11A locus
  • Translating dosage compensation to Trisomy 21: A novel approach to Down syndrome
  • Insights into population history from a high coverage Neanderthal genome

Distinguished Speakers Invited Symposium
Saturday, Oct. 26 11:45 a.m. to 1:15 p.m.
TOPIC: Medical Systems Genomics  
This symposium will provide the ASHG community with "an update from a trio of trailblazing experts on the state of the art of Systems Biology and its applications to medical genetics." Aviv Regev, Marc Vidal and Garry Nolan will, ASHG says, provide varying perspectives on the use of 'omics data to build predictive models of physiological states of the cell and the organism, including diseased states.  
These integrative approaches can provide a particularly informative picture of changes in cellular function mediated by cancer, pathogen response and other stresses, the society notes. They are also expected to challenge attendees with the huge potential for methods like these to deliver improved insights regarding disease risk and therapeutic interventions.  
The speakers will conclude by "gazing into the future, providing a vision of where systems medicine will be going in the next decade," ASHG says.  
  • Interactome networks and human disease
  • Reconstructing cellular circuits: From individual to single-cell variation in immune cells
  • A definable "structure" for the immune system and cancers at the single-cell level

Honoring the achievers
ASHG to present several awards officially at annual meeting  
BOSTON & BETHESDA, Md.—Several winners of ASHG awards were announced on the society's website in late July, and they will be recognized on Friday and Saturday during the annual meeting, as follows:  
Friday, Oct. 25 -- 4:30 p.m. to 4:50 p.m.
ASHG Award for Excellence in Human Genetics Education  
The ASHG Award for Excellence in Human Genetics Education was established to recognize those who have made significant contributions of exceptional quality and great importance to human genetics education, and in 2013 is being granted to Dr. Jessica G. Davis, an associate professor of clinical pediatrics at Weill Cornell Medical College and associate attending pediatrician at New York-Presbyterian Hospital and the Hospital for Special Surgery. Davis is being recognized for her passion and achievements in genetics education, which have had a profound influence on her patients and colleagues in clinical practice and training, including physicians, trainees and genetic counselors. Her role in helping develop medical genetics is evident in her many accomplishments, which include the development of the Sarah Lawrence genetic counseling training program, ASHG notes, and her support for counseling was essential to the establishment of genetic counseling as a discipline in the practice of human genetics.  
"Long before ASHG officially acknowledged the high value of education, Dr. Davis' name was synonymous with education in medical and human genetics," said Dr. Roberta A. Pagon, professor of pediatrics at the University of Washington, who helped to nominate Dr. Davis for the award. "Dr. Davis' contributions to education in human genetics reflect the hands-on, just-get-started approach of the days when formal programs and funding for education in genetics were almost non-existent. It was enterprising, dedicated and caring educators such as Dr. Davis who laid the foundation for the educational efforts that we take for granted today."  
Friday, Oct. 25 -- 4:50 p.m. to 5:30 p.m.
ASHG William Allan Award  
The William Allan Award is presented annually by ASHG to recognize substantial and far-reaching scientific contributions to human and medical genetics, carried out over a lifetime of scientific inquiry and productivity, and its recipient this year is Dr. Aravinda Chakravarti, a professor of medicine, pediatrics and molecular biology and genetics at the McKusick-Nathans Institute of Genetic Medicine and Johns Hopkins University. Chakravarti was chosen for this award for his many contributions to human genetics, ranging from population genetics to the molecular genetics of complex disease. In addition to developing several critical genomics methods that have been adopted by scientists worldwide, Chakravarti reportedly played a crucial role in the identification of the gene mutation associated with cystic fibrosis, the segmental aneuploidy for Charcot-Marie-Tooth type 1A and discovered common variants associated with susceptibility to autism. He pioneered linkage disequilibrium mapping to identify a recombination hotspot in the beta-globin locus and used these insights for identifying the key genes and non-coding enhancer mutations responsible for Hirschsprung disease, thereby elucidating its multifactorial basis. He helped to design and participate in the HapMap and 1000 Genomes Projects that sampled and analyzed human genetic variation across populations worldwide.

Saturday, Oct. 26 -- 8:00 a.m. to 8:20 a.m.
ASHG Victor A. McKusick Leadership Award  
ASHG named this award to honor Dr. Victor A. McKusick's far-reaching contributions to human genetics. The McKusick Leadership Award is presented to an individual whose professional achievements have fostered and enriched the development of human genetics. Recipients of this award exemplify the enduring leadership and vision required to ensure that human genetics will flourish and successfully assimilate into the broader context of science, medicine and health.
Two people will receive this year's award: Dr. Joel N. Hirschhorn of Boston Children's Hospital, Harvard Medical School and the Broad Institute, and Dr. Rochelle Hirschhorn of the Department of Medicine of New York University and Langone Medical Center.
The Hirschhorns, who have been members of ASHG for over 40 years, have provided dedicated leadership to the genetics community and the society, including Kurt serving as president and member of the board of directors and both of them having served on the Program Committee and The American Journal of Human Genetics' editorial board.
The Hirschhorns, who have been married for more than 60 years, have co-authored more than 20 papers or chapters published during the period 1959 to 2011, in addition to their many papers published independently.

Saturday, Oct. 26 -- 8:40 a.m. to 9:10 a.m.
ASHG Curt Stern Award  
The Curt Stern Award is given annually by ASHG in recognition of a major scientific achievement in human genetics that has occurred in the last 10 years. The work could be a single discovery or a series of contributions on similar or related topics. This award honors the memory of the late Dr. Curt Stern (1902-1981), a pioneer in human genetics who served as ASHG president in 1956. This year's recipient is Dr. John V. Moran, a professor of human genetics and integrative medicine at the University of Michigan. Moran, a Howard Hughes Medical Institute investigator, has been a leader in research on genome instability and the biology of DNA sequences that can "jump" to new genomic locations, known as Long Interspersed Element-1 (LINE-1 or L1) retrotransposons.  
Using an assay to monitor L1 mobility in cultured cells, Moran's laboratory has gained insights into the mechanism of human L1 retrotransposition, identified host factors that regulate L1 retrotransposition and expanded our understanding of the impact of L1 retrotransposition on the human genome. Dr. Moran's research also has demonstrated the importance of L1 retrotransposition in shaping the human genome through evolutionary time, and has led to a greater appreciation of how ongoing L1 retrotransposition contributes to human genetic diversity.

CLICK HERE to continue to part 2 of the ASHG annual meeting coverage, including photos of Boston sights and scenery

Code: E091328



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