Skip to main content
NIH

KOMP2-IMPC Annual Fall Meeting (2018)

October 2, 2018
Rockville Hilton Hotel
Rockville, Maryland

Knockout Mouse

On October 2, 2018, the National Human Genome Research Institute (NHGRI) will host the Knockout Mouse Phenotyping Program (KOMP2) and International Mouse Phenotyping Consortium (IMPC)'s annual meeting at the Rockville Hilton in Rockville, Maryland.

The meeting is focused on KOMP's collaborations with various human disease gene discovery programs. The day will feature 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. These include the Centers for Mendelian Genetics (CMG), Trans-Omics for Precision Medicine (TopMed), Gabriella Miller Kids First Pediatric Research Program (Kids First) and the Undiagnosed Disease Network (UDN).

Agenda

Time Topic Speaker
8:30 - 8:50 a.m. Setting the Stage, Goals for Discussion

Colin Fletcher,
KOMP2 Program Director, NHGRI

Steve Brown,
IMPC Chair, Medical Research Council Harwell

8:50 - 9:15 a.m. Keynote Speaker - IC Director Chris Austin
Director, National Center for Advancing Translational Sciences

 

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

Trans-Omics for Precision Medicine TOPMed

Charlene Schramm

Gabriella Miller Kids First Pediatric Research Program

James Coulombe
Program Director, Developmental Genetics and Genomics
Eunice Kennedy Shriver National Institute of Child Health
and Human Development (NICHD)

10:45 - 11:00 a.m. Break
11:00 - 11:40 a.m. Clinical Gene Discovery Katherine Rauen
Chief, Division of Genomic Medicine
UC Davis Health
Genomics England Damian Smedley
Director of Genomic Interpretation
Genomics England Limited
Session 2: Disease Allele/Disease Mechanism
Disease Mechanism
11:40 a.m. - 12:550 p.m. ClinGen Allele Registry Aleksandar Milosavljevic
Director, Program in Quantitative and Computational Biosciences,
Baylor College of Medicine
AGR/MODs Carol Bult
UDN

Brendan Lee
Chair, Molecular and Human Genetics
Baylor College of Medicine

12:55 - 1:55 p.m. Lunch
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

Genetic Diversity in the Mouse

Gary Churchill
Professor and Karl Gunnar Johansson Chair
The Jackson Laboratory

Allelic Series - Penetrance

Steve Murray
Director, KOMP Model Development
The Jackson Laboratory

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
SCGE Program Mary Perry
Program Leader, Office of Strategic Coordination
National Institutes of Health
4:00 - 4:15 p.m. Break
4:15 - 5:15 p.m. Panel Discussion John Mudgett
5:15 p.m. Adjourn

Last Updated: September 12, 2018