Media Contact:
Nalini Padmanabhan
ASHG Communications Manager
301.634.7346
press@ashg.org
For Immediate Release
Monday, October 3, 2016
12:00 pm U.S. Eastern Time (UTC-05:00)
WHEN:
Tuesday through Saturday, Oct. 18-22, 2016
WHERE:
American Society of Human Genetics 2016 Annual Meeting
Vancouver Convention Centre
999-1055 Canada Place, Vancouver, B.C. V6C 0C3
WHAT:
Invited and platform (oral) sessions and other presentations of the latest research tusing gene editing and CRISPR/Cas9 technology:
Wednesday, Oct. 19, 9:00-9:15 am, Room 207, West Building
Platform Presentation: DDRGK1 regulates SOX9 ubiquitination and its loss causes a human skeletal dysplasia
A.T. Egunsola, Baylor College of Medicine, et al
Wednesday, Oct. 19, 11:00 am-1:00 pm, Ballroom A, West Building
Invited Session: CRISPR: A new paradigm for forward human genetics
Moderators: Chun Jimmie Ye, UCSF; and Tuuli Lappalainen, New York Genome Center and Columbia University
Wednesday, Oct. 19, 4:30-5:50 pm, Ballroom ABC, West Building
Featured Plenary Abstract Session II
Moderators: Anthony Antonellis, ASHG 2016 Program Chair; and Pamela Sklar, ASHG 2016 Program Committee
- 4:30-4:50 pm: Direct identification of non-coding variants that modulate expression using high-throughput experimental assays
R. Tewhey, Harvard University, et al
- 5:30-5:50 pm: Ultraconservation of DNA sequence provides a new lens for focusing on chromosomal structural rearrangements in neurodevelopmental disorder genomes
R.B. McCole, Harvard Medical School, et al
Thursday, Oct. 20, 9:30-9:45 am, Room 211, West Building
Platform Presentation: Identifying highly constrained protein-coding regions using population-scale genetic variation
J. Havrilla, University of Utah, et al
Thursday, Oct. 20, 9:30-9:45 am, Room 221, West Building
Platform Presentation: Mutations in spliceosome-associated protein homolog CWC27 cause autosomal recessive syndromic retinitis pigmentosa
M. Xu, Baylor College of Medicine, et al
Thursday, Oct. 20, 10:00-10:15 am, Ballroom C, West Building
Platform Presentation: Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms
M. Guo, Boston Children’s Hospital, Broad Institute, et al
Thursday, Oct. 20, 11:00 am-1:00 pm, Room 221, West Building
Platform Session: Craniofacial and ocular malformations
Moderators: Joseph T. Shieh, UCSF; and Katrina M. Dipple, UCLA
- 11:15-11:30 am: Mutations in SMCHD1 are the predominant cause of arhinia and a form of muscular dystrophyH. Brand, Massachusetts General Hospital, et al
- 12:00-12:15 pm: Identification of non-coding variants at 1p22 that are pathogenic for nonsyndromic orofacial clefting
R. Cornell, University of Iowa, et al - 12:45-1:00 pm: A genotype-first approach identifies gain-of-function mutations of TFE3 in a novel syndrome with intellectual disability, seizures, facial dysmorphism, short stature and obesity
D. Lehalle, Centre Hospitalier Universitaire Dijon, et al
Thursday, Oct. 20, 12:00-12:15 pm, Room 302, West Building
Platform Presentation: Exon inclusion for the treatment of splice site mutation in merosin-deficient congenital muscular dystrophy
D.U. Kemaladewi, Hospital for Sick Children, et al
Friday, Oct. 21, 9:00-10:30 am, Room 221, West Building
Platform Session: From gene discovery to mechanism in neurological disease
Moderators: Christelle Golzio, IGBMC; and Carol Saunders, Children’s Mercy Hospital
- 9:45-10:00 am: The contribution of de novo mutations in enhancers and ultra-conserved non-coding elements to severe developmental disorders in 8,000 children
P.J. Short, Wellcome Trust Sanger Institute, et al - 10:00-10:15 am: Unveiling microcephaly mechanisms associated with DNA repair disorders using induced pluripotent stem cells and cerebral organoidsF. Pirozzi, Case Western Reserve University, et al
Friday, Oct. 21, 9:15-9:30 am, Room 119, West Building
Platform Presentation: Phenotyping pipeline for bicuspid aortic valve with/without ascending aortic aneurysm highlights pathological relevance of ROBO4 to cardiovascular function
C.E. Woods, Johns Hopkins University School of Medicine, et al
Friday, Oct. 21, 9:45-10:00 am, Room 207, West Building
Platform Presentation: GWAS of cellular and clinical traits reveals VAC14 regulates Salmonella invasion and typhoid fever susceptibility
D. Ko, Duke University Medical Center, et al
Friday, Oct. 21, 11:00 am-1:00 pm, Ballroom A, West Building
Invited Session: Genome editing: What implications and obligations does this emerging technology create?
Moderators: James C. O’Leary, Genetic Alliance; and Han G. Brunner, Maastricht University Medical Center
Friday, Oct. 21, 4:50-5:10 pm, Ballroom ABC, West Building
Plenary Presentation: Discovery and dissection of regulatory elements of the Mendelian disease gene HPRT1 using programmed CRISPR/Cas9 guide pairs for multiplexed deletion scanning
M. Gasperini, University of Washington, et al
Saturday, Oct. 22, 9:30-9:45 am, Room 207, West Building
Platform Presentation: The majority of pathogenic copy number variations in congenital limb malformation affect non-coding regulatory elements
M. Spielmann, Charité-University Berlin, et al
Saturday, Oct. 22, 10:15-11:30 am, Ballroom B, West Building
Platform Session: NGS: Integration, saturation, and interpretation
Moderators: Ryan Tewhey, Broad Institute; and Timothy Reddy, Duke University
Saturday, Oct. 22, 11:15-11:30 am, Room 302, West Building
Platform Presentation: Identification of recurrent copy number variants associated with developmental brain disorders from whole exome sequencing of 47,859 participants in the DiscovEHR study
A.E. Hare-Harris, Geisinger Health System, et al
- 10:15-10:30 am: Saturation genome editing to characterize thousands of mutations at the HPRT1 locusG.M. Findlay, University of Washington, et al
- 10:30-10:45 am: Using multiplex non-coding CRISPR deletion libraries to individually perturb every CTCF binding site in the human genome
S.K. Reilly, Broad Institute and Harvard University, et al
Ongoing: Posters Open for Viewing, Exhibit Hall B, West Building
Complex Traits and Polygenic Disorders, Posters 1179F-1649T
Epigenetics and Gene Regulation, Posters 1957W-2157W
Mendelian Phenotypes, Posters 2255T-2661F
About the American Society of Human Genetics (ASHG)
Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide. Its nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others with an interest in human genetics. The Society serves scientists, health professionals, and the public by providing forums to: (1) share research results through the ASHG Annual Meeting and in The American Journal of Human Genetics; (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, health care providers, advocates, policymakers, educators, students, and the public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies. For more information, visit: http://www.ashg.org.
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