ASHG 2016 Tipsheet: Gene Editing and CRISPR

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

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

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

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

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://wptest.ashg.org.

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