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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).


  • 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

    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 ShriverNational Institute of Child Health
    and Human Development (NICHD)
  • 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
  • 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
  • 4:15 - 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