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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) hosted the Knockout Mouse Phenotyping Program (KOMP2) and International Mouse Phenotyping Consortium (IMPC)'s annual meeting at the Rockville Hilton in Rockville, Maryland.

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 Genetics (CMG), Trans-Omics for Precision Medicine (TOPMed), Gabriella Miller Kids First Pediatric Research Program (Kids First) and the Undiagnosed Disease Network (UDN).

YouTube video Video Playlist: KOMP2-IMPC Annual Fall Meeting (2018)


Time Topic Speaker
8:30 a.m.

IMPC Award of Excellence


Colin McKerlie
Toronto Center for Phenogenomics
8:30 - 8:50 a.m.

Setting the Stage, Goals for Discussion

Video (Fletcher) - Video (Brown)

Colin Fletcher
KOMP2 Program Director, NHGRI

Steve Brown
IMPC Chair, Medical Research Council Harwell

8:50 - 9:15 a.m.

Keynote: Translating KOMP


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
Program Director, Heart Development & Structural Diseases
National Heart, Lung, and Blood Institute (NHLBI)


Rebecca Beer
Program Director, Epidemiology, NHLBI

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. - 12:50 p.m.

ClinGen Allele Registry


Aleksandar Milosavljevic
Director, Program in Quantitative and Computational Biosciences,
Baylor College of Medicine

Undiagnosed Diseases Network (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

Somatic Cell Genome Editing (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

Member of IMPC's Panel of Scientific Consultants (PSC), JsM BioScience LLC


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

5:15 p.m. Adjourn

Last Updated: October 9, 2018