Show Preview: ASHG 2016--Digging into the genome in Canada

The American Society of Human Genetics brings its annual meeting to Vancouver, with plenty new to offer, as well as the familiar and traditional

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American Society of Human Genetics (ASHG) 66th Annual Meeting
ASHG 2016
Vancouver Convention Centre
Vancouver, British Columbia
October 18-22, 2016
Digging into the genome in Canada
The American Society of Human Genetics brings its annual meeting to Vancouver
VANCOUVER, British Columbia—One of the things we always like to ask when we preview an upcoming conference of potential interest to DDNews readers is, “What’s new this year?” As it happens for the annual meeting of the American Society of Human Genetics (ASHG) being held in Vancouver, British Columbia, Oct. 18-22, there seems to be quite a lot of fresh material for even the veteran attendees.
One of the more notable new items at ASHG 2016 is that the society will hold a joint symposium on cardiovascular genetics with the American Physiological Society—an event that will be replicated at the American Physiological Society’s own annual meeting in spring 2017.
“Through joint sessions like this one, we hope to reach the increasing number of scientists who use genetics in their research but don’t consider themselves geneticists,” says Dr. Lucia P. Barker, scientific program manager at ASHG.
In addition, Barker tells DDNews that ASHG 2016 also will introduce a Poster Talks session in which authors of 20 to 30 of the high-scoring posters at the event will give rapid-fire, three-minute mini-presentations on their work.
“Like the Poster Walks and Reviewers’ Choice Abstracts, this session aims to draw attention to the interesting, high-quality science contained in the meeting’s posters,” Barker explains.
The ASHG Program Committee also increased the number of abstract-driven plenary talks from six to 12, in part to increase the time attendees spend together. The presentations will take place over three days, with four talks per session scheduled at the end of each day (Tuesday, Wednesday and Friday). This change, says ASHG on its website, will have the benefit of “gathering all attendees in a single group as the day ends, which the Program Committee hopes will stimulate discussion and allow for individuals to meet for evening activities.”
To allow for more cohesive and varied Platform Sessions, the Program Committee also adjusted the schedule to include nine sessions of eight talks each, 27 sessions of six talks, nine sessions of five talks and nine sessions of four talks, which will be presented throughout the meeting in a half-dozen concurrent time slots. In addition, Platform Sessions have been moved to the beginning of the day.
There is also a new format for the annual awards presentations so that, rather than presenting all ASHG awards in a single session, the content will be broken into multiple events. Each awardee will present to attendees after an afternoon plenary session as follows, with two of them presenting on Oct. 18, another on Oct.19 and the remaining three on Oct. 21.
“This year, our Program Committee included a special subcommittee on clinical content. This group’s goal was to better package meeting content relevant to clinicians. They have constructed and labeled several platform sessions as Clinical Spotlight sessions, and have revamped our annual Diagnostic Challenges session to include adult phenotypes in addition to pediatric ones,” Barker adds. “Mentorship is also a major focus this year. The presidential symposium will cover the changing nature of mentorship and differences between academia and industry, including practical insights. We are also giving out our first-ever Mentorship Award to acknowledge the importance of mentoring in science.”
Barker notes that a number of the invited and platform sessions cover basic advances in genetics, which may inform the identification of targets and the development of drugs and diagnostics, noting, “Our sessions also have translational content from academia and industry on the latest developments in these areas. A satellite symposium on The Expanding Universe of Pharmacogenomics, organized by the Pharmacogenomics Research Network (PGRN), will take place Oct. 17-18, just before the meeting starts. ASHG interactive workshops and exhibitor education events provide experience and practical guidance on the latest tools, including a chance to try them out. Finally, visit the exhibit hall to see cutting-edge products and services from companies around the world and network with the experts who develop them.”
To give you a bit more of a taste of the event—whether you’re going this year, considering it or wondering about future ASHG meetings—here are some highlights ASHG provided for media and attendees:
  • Plenary sessions featuring high-scoring abstracts on cancer and aging, large-scale genome sequencing studies, the use of electronic health records in genetics research and more (Tuesday, Oct. 18, 5:00-6:20 p.m.; Wednesday, Oct. 19, 4:30-5:50 p.m.; and Friday, Oct. 21, 4:30-5:50 p.m.)
  • Invited sessions on CRISPR/Cas9 and gene editing, developments in DNA forensics, effects of natural selection on the modern human genome, genetics education and public engagement, genetic counseling and translation of research into the clinic (Wednesday, Oct. 19, 11:00 a.m.-1:00 p.m., and Friday, Oct. 21, 11:00 a.m.-1:00 p.m.)
  • Genetics of obesity and body fat distribution, including data from diverse, international populations (Wednesday, Oct. 19, 9:00-10:30 a.m.)
  • Insights from very large cohorts (Wednesday, Oct. 19, 9:00-10:30 a.m., and Thursday, Oct. 20, 11:00 a.m.-1:00 p.m.)
  • Integration and usefulness of whole genome/exome sequencing in the clinic, plus related issues of patient expectations, costs and carrier screening (Wednesday, Oct. 19, 9:00-10:30 a.m.; Friday, Oct. 21, 9:00-10:30 a.m., and Saturday, Oct. 22, 9:00-10:00 a.m.)
  • Genes and mechanisms (Friday, Oct. 21, 9:00-10:30 a.m.) and therapeutic developments (Thursday, Oct. 20, 11:00 a.m.-1:00 p.m.) related to neurological disease
  • Diagnostics for hereditary (Thursday, Oct. 20, 11:00 a.m.-1:00 p.m.) and somatic cancers (Saturday, Oct. 22, 9:00-10:00 a.m.)
  • Heart health and disease, as affected by single-gene mutations (Friday, Oct. 21, 9:00-10:30 a.m.) and genetic expression (Saturday, Oct. 22, 10:15-11:30 a.m.)
  • Mosaicism and disease, from origins of mutations through resulting phenotypes and testing recommendations (Saturday, Oct. 22, 10:15-11:30 a.m.)
We tried to get a peek into what next year might bring, but there isn’t much ASHG can share yet.
“We are in very early stages of planning for ASHG 2017, which will be in Orlando,” Barker says. “Soon after ASHG 2016 ends, we will open invited session and workshop submissions for the 2017 meeting, which are due in December.”
To find out more about the ASHG 2016 annual meeting’s educational programming, social events, exhibits, posters and more—as well as the Canadian host city of Vancouver, visit
To find out more about the satellite symposium, The Expanding Universe of Pharmacogenomics, visit
Six awards to be presented at ASHG 2016
BETHESDA, Md.—The American Society of Human Genetics (ASHG) had already made announcements from its Maryland office in late June as to the winners of its 2016 awards, but the actual presentations for them—the Curt Stern Award, Victor A. McKusick Leadership Award, William Allan Award, Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education, Advocacy Award and the inaugural Mentorship Award—will take place at ASHG 2016 in Vancouver.
Curt Stern Award
ASHG named Dr. Brendan Lee, the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics and chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine, as the 2016 recipient of the Curt Stern Award.
This annual award, named for the late pioneering geneticist Dr. Curt Stern, recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade. ASHG will present the award, which will include a crystal plaque and $10,000 prize, on Tuesday, Oct. 18.
“I am humbled and honored by this recognition. It is especially meaningful as ASHG is the professional society I have ‘grown up’ in over the past two decades,” Lee said.
Throughout his career, he has focused on human inborn errors of metabolism and structural birth defects of the skeleton. As a trainee, he identified the first genetic cause of a human chrondrodysplasia and cloned the gene associated with Marfan syndrome, another disorder of connective tissue. Since then, he has made important genetic, mechanistic and clinical discoveries related to skeletal dysplasias and urea cycle disorders, translated these discoveries into therapeutic advances and tested said therapies in clinical trials.
In 2006, Lee and colleagues published a study describing mutations to CRTAP involved in osteogenesis imperfecta (OI), or brittle bone disease, which led to the identification of several other genes involved in OI. Soon afterward, his laboratory discovered a signaling molecule triggered by the CRTAP mutation. The group is now developing a therapy based on that finding.
Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education
Dr. David Valle, the Henry J. Knott Professor and director of the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, will receive this award. He also directs the Predoctoral Training Program in Human Genetics and the Residency Program in Medical Genetics at the Johns Hopkins University School of Medicine and was the founding director of the Johns Hopkins Center for Inherited Disease Research.
The Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education recognizes an individual for contributions of exceptional quality and importance to human genetics education internationally. Awardees have had long-standing involvement in genetics education, producing diverse contributions of substantive influence on individuals and/or organizations. Valle will receive his award, which includes a plaque and $10,000 prize, on Friday, Oct. 21.
As director of the Predoctoral Training Program in Human Genetics since 1989, Valle has been involved in the education of more than 400 students. As a physician-scientist, he continues to lecture to medical students and helped lead the development and implementation of “Genes to Society,” a revised medical school curriculum at Johns Hopkins based on the theme of individuality/variability. Noted for his Socratic style, he has trained more than 40 graduate students and postdocs in his laboratory.
Outside of Johns Hopkins, Valle has co-directed the McKusick Short Course in Human and Mammalian Genetics and Genomics at the Jackson Laboratory, an annual two-week program that enrolls students from around the world, since 1992. He has also edited the sixth, seventh and eighth editions of The Metabolic Basis of Inherited Disease, a core genetics textbook, and since 2001 has served as editor-in-chief of the online version of Scriver’s Metabolic and Molecular Bases of Inherited Disease.
William Allan Award
ASHG named Dr. James Gusella—the Bullard Professor of Neurogenetics in the Department of Genetics at Harvard Medical School, a member of the research staff in the Department of Neurology at the Massachusetts General Hospital (MGH) and an associate member at the Broad Institute—as the 2016 recipient of the annual William Allan Award.
The award recognizes a scientist for substantial and far-reaching scientific contributions to human genetics and was established in 1961 in memory of Dr. William Allan, one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. Gusella will receive his award, which will include an engraved medal and $25,000 prize, on Wednesday, Oct. 19.
As first Director of the MGH Center for Human Genetic Research, Gusella pioneered the “genetic research cycle” paradigm to conceptualize genetics research from basic science to genotype-driven modeling, based on associations with human disease and translation into diagnostics, treatments and prevention strategies. He has led numerous national and international research consortia with broad impact on human disease. In 1983, he and colleagues published a seminal study that used recombinant DNA technology to link DNA markers to the mutation causing Huntington's disease (HD). Over the following years, he and his colleagues cloned the HD gene, located its stretch of repeated DNA, showed that the size of that stretch is correlated with age of disease onset and age of death, described how it causes disease and identified genetic factors that affect how quickly symptoms develop.
Gusella’s lab and collaborators have mapped and identified the genes associated with many other neurological conditions, such as amyotrophic lateral sclerosis and Alzheimer's disease, as well as neurodevelopmental disorders such as autism. Gusella was an early advocate of broad collaboration focused on conditions caused by the rearrangement of chromosomes, co-founding the Developmental Genome Anatomy Project in 1999. He continues to develop novel genome-wide strategies to identify genes critical to human development.
Mentorship Award
New this year is the Mentorship Award, and the first recipient of it is Dr. Elaine H. Zackai, a professor of pediatrics at the Children’s Hospital of Philadelphia (CHOP) and a professor of pediatrics in human genetics and professor of obstetrics and gynecology at the Perelman School of Medicine at the University of Pennsylvania.
This inaugural award recognizes ASHG members who have significant records of accomplishment as mentors. It is open to individuals at all academic ranks who have shown a sustained pattern of exemplary mentorship at the graduate student, postdoctoral, residency or fellowship level. The award presentation, which includes a plaque and $10,000 prize, will take place on Friday, Oct. 21.
“Dr. Zackai’s nomination included testimonials from 38 former trainees who now occupy research and clinical positions at institutions around the world,” said Dr. Raju Kucherlapati, chair of the ASHG Awards Committee. “Their comments credited her dedication to her students, leadership by example, compassion for patients and rigorous approach to diagnosis with inspiring them to successful careers in human genetics.”
After receiving her medical degree in 1968, Dr. Zackai completed a residency in pediatrics and a fellowship in medical genetics. Since then, she has held faculty and hospital appointments at CHOP and the University of Pennsylvania, where she has focused on diagnosis, dysmorphology and applied clinical research responding to real-world situations.
Advocacy Award
ASHG has named the Canadian Coalition for Genetic Fairness (CCGF) and Sen. James Cowan of the Parliament of Canada as the 2016 recipients of its annual Advocacy Award.
This award honors individuals or groups who have exhibited excellence and achievement in applications of human genetics for the common good, in areas such as facilitating public awareness of genetics issues, promoting funding for biomedical research and integrating genetics into health systems. ASHG will present the award, which will include a cash prize to CCGF and a plaque, on Friday, Oct. 21.
For several years, Cowan and CCGF have led efforts to pass a law preventing genetic discrimination in Canada. This year, Cowan’s bill was passed unanimously by the Senate of Canada. It is now before the House of Commons. First introduced in April 2013, Bill S-201 would enact a new Canadian Genetic Non-Discrimination Act that would protect individuals from being required to undergo a genetic test, or disclose the results of a test, as a condition of acquiring a good or service or entering into a contractual agreement. It would also prohibit employers from requiring employees to undergo genetic testing or disclose testing results or taking discriminatory action against employees who refuse to undergo genetic testing or reveal testing results. Finally, it would amend the Canadian Human Rights Act to prohibit discrimination on the grounds of genetic characteristics.
The CCGF is a coalition of genetic disease-focused organizations that aim to prevent genetic discrimination in Canada, particularly as it relates to employment and insurance. They do so by advocating for nondiscrimination policy at the federal and provincial levels as well as by relevant organizations, and are the leading voice advocating for S-201’s passage.
Cowan has a history of advocating for public health policy. Prior to his time in parliament, he was vice chair of the Metropolitan Mental Health Planning Board and director of the Nova Scotia Division of the Canadian Cancer Society. In addition to Bill S-201, he has introduced legislation to address the criminal justice system’s approach to people with mental illness.
ASHG has long supported the establishment of strong protections against genetic discrimination, including advocating for the passage of the U.S. Genetic Information Nondiscrimination Act in 2008, and recognizes a need for similar policies worldwide. Earlier this year, ASHG issued a statement of support for S-201.
“Such protections are necessary to reassure members of the public that they can participate in genetic research or undergo a genetic test without fear that the results will be used to discriminate against them,” said Dr. Derek Scholes, ASHG’s director of science policy.
Victor A. McKusick Leadership Award
Dr. Stanley M. Gartler, professor emeritus of medicine (medical genetics) and genome sciences at the University of Washington in Seattle, is the 2016 recipient of the annual Victor A. McKusick Leadership Award.
This award, named in honor of the late Dr. Victor A. McKusick, recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. ASHG will present the McKusick Award, which will include a plaque and $10,000 prize, to Gartler on Tuesday, Oct. 18.
Gartler has worked at the University of Washington for nearly 50 years. He was a founding member of the Division of Medical Genetics in the Department of Medicine in 1957, and later a founding member of the Department of Genetics in 1959. He has spent much of his career studying X chromosome inactivation and the genetics of somatic cells, but has made key discoveries and connections outside of these areas.
“Dr. Gartler is a giant in the field of human genetics and has conducted groundbreaking, cross-cutting research since the 1960s,” said Dr. Gail Jarvik, of the University of Washington, a member of the ASHG board of directors and longtime colleague of Gartler’s. “He has a talent for learning the details of a particular genetic system and then applying this knowledge outside of that system, to answer questions no one else thought to ask.”
By studying glucose-6-phosphate-dehydrogenase as a genetic marker in the 1960s, Gartler demonstrated that most human tumors were clonal, originating from a single cell. A few years later, when using markers to study crossing over in cultured cell lines, he found that many of the markers for different cell lines were identical, which led him to discover extensive HeLa contamination in many of these long-established lines. Using a similar, interdisciplinary approach, Gartler has worked with reproductive medicine specialists to address fundamental questions about fetal oocytes and the fate of the X chromosome in triploid cells.

Exhibit hall hours
Wednesday, Oct. 19
10 a.m. to 4 p.m.
Thursday, Oct. 20
10 a.m. to 4 p.m.
Friday, Oct. 21
10 a.m. to 4:15 p.m.

About the meeting
The ASHG annual meeting is reportedly the largest human genetics meeting and exposition in the world. This year’s meeting is expected to attract over 6,500 scientific attendees, plus over 200 exhibiting companies. The meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
ASHG members and leading scientists from around the world are selected to present their research findings at invited, platform and poster sessions. Abstracts presented at the meeting are published online and are citable. ASHG’s annual 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.
Registration is required for admittance to all invited scientific sessions, platform sessions, exhibits, posters, award presentations and other meeting events, unless otherwise indicated in the program schedule. The official language of the meeting is English.

Social and networking events
Opening Reception
Wednesday, Oct. 19, 6:30 p.m. to 8:30 p.m.
Exhibit Hall, Vancouver Convention Centre (East Building)
As ASHG promotes the event: “Join your colleagues for a night of fun under the Vancouver stars! Or the next best thing: Camp ASHG.”
Camp ASHG invites you to take the night off and, as ASHG says, “let your inner child run free (and network).” Attendees and exhibitors will be welcomed into an outdoor-themed room complete with trees, fire pits, Adirondack chairs and picnic tables. Enjoy activities like life-sized nostalgia games, native-inspired jewelrymaking, “green screen” photos in the Canadian wilderness, souvenir caricatures and more.
#ASHG16 Tweetup
Sponsored by Eisai
Thursday, Oct. 20, 6:30 p.m. to 8:30 p.m.
Mahony & Sons Burrard Landing, #36-1055 Canada Place, Vancouver
Ever wonder what all of those people on Twitter or other social media look like in person? Here's your chance to find out. Join the members of the ASHG communications committee and any other ASHG attendees who use social media like Twitter for a happy hour and conversation. This event is open to all ASHG attendees.

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