2018 KOMP2-IMPC Annual Fall Meeting
Event Details
The National Human Genome Research Institute (NHGRI) hosted the Knockout Mouse Phenotyping Program (KOMP2) and International Mouse Phenotyping Consortium (IMPC)'s annual meeting at the Rockville Hilton in Rockville, Maryland, on October 2, 2018.
The meeting focused on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and discussions from current and potential collaborators, specifically groups focused on human genes and variants who may find KOMP data helpful for their efforts. Collaborators included the Centers for Mendelian Genomics (CMG), Trans-Omics for Precision Medicine (TOPMed), Gabriella Miller Kids First Pediatric Research Program (Kids First) and the Undiagnosed Disease Network (UDN).
Rockville Hilton Hotel
Agenda
- 8:30 a.m. IMPC Award of Excellence
Colin McKerlie
Toronto Center for Phenogenomics
Video - 8:30 - 8:50 a.m. Setting the Stage, Goals for Discussion
Colin Fletcher
KOMP2 Program Director, NHGRI
Video
Steve Brown
IMPC Chair, Medical Research Council Harwell
Video - 8:50 - 9:15 a.m. Keynote: Translating KOMP
Chris Austin
Director, National Center for Advancing Translational Sciences
Video -
Session 1: Disease Gene Discovery
Utility of the Null Allele Data - 9:15 - 10:45 a.m.
Centers for Mendelian Genomics & KOMP2 Collaboration
David Valle
Director, Institute of Genetic Medicine
Johns Hopkins Medicine
Video
Trans-Omics for Precision Medicine TOPMed
Charlene Schramm
Program Director, Heart Development & Structural Diseases
National Heart, Lung, and Blood Institute (NHLBI)
Rebecca Beer
Program Director, Epidemiology, NHLBI
Video
Gabriella Miller Kids First Pediatric Research Program
James Coulombe
Program Director, Developmental Genetics and Genomics
Eunice Kennedy ShriverNational Institute of Child Health
and Human Development (NICHD)
Video - 11:00 - 11:40 a.m.
Clinical Gene Discovery
Katherine Rauen
Chief, Division of Genomic Medicine
UC Davis Health
Video
Genomics England
Damian Smedley
Director of Genomic Interpretation
Genomics England Limited
Video - Session 2: Disease Allele/Disease Mechanism
Disease Mechanism - 11:40 a.m. - 12:50 p.m.
ClinGen Allele Registry
Aleksandar Milosavljevic
Director, Program in Quantitative and Computational Biosciences,
Baylor College of Medicine
Video
Undiagnosed Diseases Network (UDN)
Brendan Lee
Chair, Molecular and Human Genetics
Baylor College of Medicine
Video - Session 3: Genetic Context
Factors Affecting Disease Expression - 1:55 - 3:10 p.m.
Allelic Expression
Nicholas Katsanis
Director, Center for Human Disease Modeling
Duke University
Video
Genetic Diversity in the Mouse
Gary Churchill
Professor and Karl Gunnar Johansson Chair
The Jackson Laboratory
Video
Allelic Series - Penetrance
Steve Murray
Director, KOMP Model Development
The Jackson Laboratory
Video - Session 4: Genetic Medicine
Therapeutic Challenges and Opportunities - 3:10 - 4:00 p.m.
Prenatal Diagnosis
Melissa Parisi
Chief, Intellectual and Developmental Disabilities Branch
NICHD
Video
Somatic Cell Genome Editing (SCGE) Program
Mary Perry
Program Leader, Office of Strategic Coordination
National Institutes of Health
Video - 4:15 - 5:15 p.m. Panel Discussion
Moderator:
John Mudgett
Member of IMPC's Panel of Scientific Consultants (PSC), JsM BioScience LLC
Panelists:
Suma Shankar
Director, Precision Genomics, University of California Davis
Dave Valle
Director, Institute of Genetic Medicine, Johns Hopkins Medicine
Melissa Parisi
Chief, Intellectual and Developmental Disabilities Branch, NICHD
Video - 5:15 p.m. Adjourn
Last updated: October 9, 2018