ASHG Annual Meeting: Beantown becomes Genetown

American Society of Human Genetics' annual meeting in Boston covers personalized medicine, whole-genome sequencing, the epigenome and much more

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BOSTON—Although the focus of the 63rd annual meeting of theBethesda, Md.-based American Society of Human Genetics (ASHG) being held inBoston Oct. 22-26 is, like most such conferences, overwhelmingly focused oneducational aspects and scientific achievements, this year marks a strong shifttoward encouraging more communication and interaction as well.
"We're really trying to spur more interaction betweenmembers attending the annual meeting, particularly between the older membersand the younger ones," says Joseph McInerney, the ASHG's executive vicepresident. "One of the things we're doing is that we will have a welcomereception 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, toencourage 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 canbecome acquainted with new colleagues or reacquainted with former colleagues,"ASHG notes. The date and location were changed this year in part because theballroom space at the headquarters hotel was too small, but also to providededicated time to network with colleagues sharing similar scientific interestsand to provide additional time to visit the exhibits.
"We're also providing an opportunity for our speakers, theplenary speakers in particular, to spend time in our exhibit booth, ASHGCentral, in the main area of the exhibit hall," McInerney explains. "This is anopportunity for everyone—but in particular we hope for younger members—to speakto these people at designated times. What usually happens after any kind oftalk at the meeting is that people queue up to speak with the presenter, andthat often doesn't work out because presenters often have somewhere else to goright after, or there is another event scheduled right afterward."
Speakers are being asked to spend 45 minutes to an hour atASHG Central, and they have been encouraged to bring along their collaboratorsas well if possible, McInerney says. ASHG has also asked that at least onemember of the society's Program Committee be present as well in case meetingattendees want more information about the context of the presentation, such aswhy it was chosen as plenary session event or why it was deemed notable.
Another addition to this year's programming is a sessioncalled "ASHG Next," which is a part of the society's strategic planningprocess.
"We want to get a sense from membership on their views ofthe future of ASHG and provide better membership services," McInerney says."It's an hourlong session that will be focused on three or four questions withrespect to the future of the society, and we'll have an audience responsesystem so that attendees can provide feedback to the questions."
ASHG Next will be held on Thursday, Oct. 24, from 6:45 7:45 p.m. and will feature light refreshments, and it will be moderated byDr. Jeff Murray, the 2013 ASHG president, and Dr. Cynthia C. Morton, the 2014ASHG president. The audience response system will be handled via mobiledevices. In advance of the session, attendees will be able go to the iTunesstore, 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, the60th anniversary of the discovery of the double helix and the 10th anniversaryof the completion of the Human Genome Project. As part of this effort, eachscientific registrant's badge holds either a genetic discovery or a nameassociated with such a discovery.
"The goal is to find your match," McInerney explains. "Ifyou find that person, the both of you can go to ASHG Central to enter your nameinto a drawing for a free iPad. We'll give away a total of 10 iPads, with oneto each person in five matching teams."
The announcement of the winners will be made during the ASHGbusiness meeting on Friday, and matched people must be present at that meetingto win.
The ASHG annual meeting is reportedly the largest humangenetics meeting and exposition in the world, and it is expected to attractmore than 6,500 scientific attendees, plus nearly 200 exhibiting companies,this year. Abstracts of work submitted for presentation at the annual meetingwill be published online as well. The meeting also features a trade show floorthat offers attendees the opportunity to view state-of-the-art medical andlaboratory equipment, products, services and computer software designed toenhance 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 addresswill be immediately followed by the plenary platform session, consisting of sixof the highest-scoring submitted abstracts. The scientific program for the following four days will include 21invited scientific sessions and 45 platform sessions. The plenary session andplatform presentation sessions will be comprised of more than 400 presentationsdrawn from submitted abstracts, and thousands of posters will also be ondisplay.
"Although our society turned 65 this year, it is far from ready forretirement," noted Murray on the ASHG website for the annual meeting. "Ourmembers have led the way as changes in knowledge, technology, policy andeducation have challenged our mission over the last seven decades. Genetics hasnever been more central than it is today to the national and internationalconversations surrounding science and its application in health, law andteaching. But we must ever focus our commitment to being a part of the solutionto the changes that confront us. Having an engaged and active membership whocreate a strategic vision for our future can ensure that we increase inrelevance and utility for ASHG in particular and for advancing the good ofsociety in general."


ASHG to maintainNCHPEG's programs
BETHESDA, Md.—On Aug 5, the American Society of Human Genetics(ASHG) noted that the impending closure of the National Coalition for HealthProfessional Education in Genetics (NCHPEG), scheduled for Aug. 31, "puts atrisk a large, high-quality collection of programs for a broad range ofhealthcare providers and educators. To help ensure that more than a decade'sworth of effort and investment remains available to the human-geneticscommunity and health professionals, ASHG will assume responsibility formaintaining NCHPEG's website and the resources it contains for a period of atleast six months."
During this six-month period, ASHG's board of directors willconsider the society's role in genetics education for health professionals anddetermine the next steps in the stewardship of the existing programs and NCHPEGwebsite.
"We regret the closure of NCHPEG and the loss of thiscontributory and influential group, but we are pleased to be the vehicle forthe continued availability of its products," ASHG noted in announcing its plansto carry on the coalition's programming.
McInerney replacesBoughman as EVP
BETHESDA, Md.—Spring of this year saw a change in day-to-dayleadership at the ASHG, with Joseph McInerney named as the society's executivevice president, a position in which he is responsible for representing thesociety in its daily affairs, guiding and implementing the broad agenda of thesociety in consultation with the president and the board of directors andinteracting on an ongoing basis with ASHG committees.
McInerney previously served in an executive capacity for 10years as executive director of the National Coalition for Health ProfessionalEducation in Genetics (NCHPEG), from which he retired in 2010. Prior to that,he was director of the Biological Sciences Curriculum Study, a nonprofit curriculumdevelopment group, from 1985 to 1999. He has been an active ASHG member since1980, serving on and chairing the Information and Education Committee from 1988to 1999 and 2009 to 2011.
"We are extremely fortunate to have hired Joe McInerney forthis important position," said Dr. Jeff Murray, 2013 president of ASHG and aprofessor of pediatrics at the University of Iowa. "He is a proven leader whowill help guide the society during this period of great change in genomicresearch, medicine and education."

ASHG Annual Meeting Locations
Annual meetingsessions and exhibits
Boston Convention and Exhibition Center
415 Summer St., Boston
ASHG headquartershotel
Westin Boston Waterfront Hotel
425 Summer St., Boston

Plenary sessionabstract presentations
  • Whole-exomesequencing of 94 matched brain metastases and paired primary tumors revealspatterns of clonal evolution and selection of driver mutations
  • Pathogenic de-novo SNVs, indels and CNVs in 1,000children with undiagnosed developmental disorders
  • Chromatinloops and CNVs: The complex spatial organization of the 16p11.2 locus
  • Fine-mappingGWAS followed by genome editing identifies an essential erythroid enhancer atthe HbF-associated BCL11A locus
  • Translatingdosage compensation to Trisomy 21: A novel approach to Down syndrome
  • Insightsinto population history from a high coverage Neanderthal genome

DistinguishedSpeakers 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 "anupdate from a trio of trailblazing experts on the state of the art of SystemsBiology and its applications to medical genetics." Aviv Regev, Marc Vidal andGarry Nolan will, ASHG says, provide varying perspectives on the use of 'omicsdata to build predictive models of physiological states of the cell and theorganism, including diseased states.
These integrative approaches can provide a particularlyinformative picture of changes in cellular function mediated by cancer,pathogen response and other stresses, the society notes. They are also expectedto challenge attendees with the huge potential for methods like these todeliver 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.
  • Interactomenetworks and human disease
  • Reconstructingcellular 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
ASHGto present several awards officially at annual meeting
BOSTON & BETHESDA, Md.—Several winners ofASHG awards were announced on the society's website in late July, and they willbe recognized on Friday and Saturday during the annual meeting, as follows:
Friday,Oct. 25
-- 4:30p.m. to 4:50 p.m.
ASHGAward for Excellence in Human Genetics Education
The ASHG Award forExcellence in Human Genetics Education was established to recognize those whohave made significant contributions of exceptional quality and great importanceto human genetics education, and in 2013 is being granted to Dr. Jessica G.Davis, an associate professorof clinical pediatrics at Weill Cornell Medical College and associate attendingpediatrician at New York-Presbyterian Hospital and the Hospital for SpecialSurgery.
Davis is being recognized for her passion and achievements in geneticseducation, which have had a profound influence on her patients and colleaguesin clinical practice and training, including physicians, trainees and geneticcounselors. Her role in helping develop medical genetics is evident in her manyaccomplishments, which include the development of the Sarah Lawrence geneticcounseling training program, ASHG notes, and her support for counseling wasessential to the establishment of genetic counseling as a discipline in thepractice of human genetics.
"Long before ASHGofficially acknowledged the high value of education, Dr. Davis' name wassynonymous with education in medical and human genetics," said Dr. Roberta A.Pagon, professor of pediatrics at the University of Washington, who helped tonominate Dr. Davis for the award. "Dr. Davis' contributions to education in humangenetics reflect the hands-on, just-get-started approach of the days whenformal programs and funding for education in genetics were almost non-existent.It was enterprising, dedicated and caring educators such as Dr. Davis who laidthe foundation for the educational efforts that we take for granted today."
Friday,Oct. 25
-- 4:50p.m. to 5:30 p.m.
ASHGWilliam Allan Award
The William Allan Award is presented annually by ASHG torecognize substantial and far-reaching scientific contributions to human and medicalgenetics, carried out over a lifetime of scientific inquiry and productivity,and its recipient this year is Dr. Aravinda Chakravarti, a professor ofmedicine, pediatrics and molecular biology and genetics at the McKusick-NathansInstitute of Genetic Medicine and Johns Hopkins University.
Chakravarti was chosen for this award for his many contributions to humangenetics, ranging from population genetics to the molecular genetics of complexdisease. In addition to developing several critical genomics methods that havebeen adopted by scientists worldwide, Chakravarti reportedly played a crucialrole in the identification of the gene mutation associated with cysticfibrosis, the segmental aneuploidy for Charcot-Marie-Tooth type 1A anddiscovered common variants associated with susceptibility to autism. Hepioneered linkage disequilibrium mapping to identify a recombination hotspot inthe beta-globin locus and used these insights for identifying the key genes andnon-coding enhancer mutations responsible for Hirschsprung disease, therebyelucidating its multifactorial basis. He helped to design and participate inthe HapMap and 1000 Genomes Projects that sampled and analyzed human geneticvariation across populations worldwide.

Saturday,Oct. 26
-- 8:00a.m. to 8:20 a.m.
ASHGVictor A. McKusick Leadership Award
ASHG named this award to honor Dr. Victor A. McKusick'sfar-reaching contributions to human genetics. The McKusick Leadership Award ispresented to an individual whose professional achievements have fostered andenriched the development of human genetics. Recipients of this award exemplifythe enduring leadership and vision required to ensure that human genetics willflourish 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 BostonChildren's Hospital, Harvard Medical School and the Broad Institute, and Dr.Rochelle Hirschhorn of the Department of Medicine of New York University andLangone Medical Center.
The Hirschhorns, who have been members of ASHG for over 40 years, have provideddedicated leadership to the genetics community and the society, including Kurtserving as president and member of the board of directors and both of themhaving served on the Program Committee and The American Journal of HumanGenetics' editorial board.
The Hirschhorns, who have been married for more than 60 years, have co-authoredmore than 20 papers or chapters published during the period 1959 to 2011, inaddition 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 inrecognition of a major scientific achievement in human genetics that hasoccurred in the last 10 years. The work could be a single discovery or a seriesof contributions on similar or related topics. This award honors the memory ofthe late Dr. Curt Stern (1902-1981), a pioneer in human genetics who served asASHG president in 1956. This year's recipient is Dr. John V. Moran, a professorof human genetics and integrative medicine at the University of Michigan.Moran, a Howard Hughes Medical Institute investigator, has been a leader inresearch 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 L1retrotransposition, identified host factors that regulate L1 retrotranspositionand expanded our understanding of the impact of L1 retrotransposition on thehuman genome. Dr. Moran's research also has demonstrated the importance of L1retrotransposition in shaping the human genome through evolutionary time, andhas led to a greater appreciation of how ongoing L1 retrotranspositioncontributes to human genetic diversity.

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

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