International Faculty
USA
Dr. Paul Kruszka, MD, MPH, FACMG
Genentech Professor of Pediatrics
Director, Division of Pediatric Genetics
Department of Pediatrics, University of Virginia School of Medicine
Email: pk3e@uvahealth.org | Cell: 434-320-5915
Education and Training
- 07/2011-07/2014 | Clinical Genetics Residency, The National Human Genome Research Institute, NIH, Bethesda MD
- 01/2009-07/2011 | Master of Public Health, University of Massachusetts, Amherst MA
- 07/1998-06/2001 | Family Medicine Residency, University of Virginia, Charlottesville VA
- 08/1994-05/1998 | Doctor of Medicine, University of Michigan, Ann Arbor MI
- 07/1985-05/1989 | Bachelor of Science, U.S. Naval Academy, Annapolis MD
Professional Experience
- 12/2025-present | Genentech Professor of Pediatrics (Endowed Professorship)
- 04/2025-present | Director, Division of Pediatric Genetics, Professor of Pediatrics, University of Virginia
- 04/2021-04/2025 | Chief Medical Officer at GeneDx.
- 03/2022-present | Clinical geneticist, Rare Disease Institute at Children’s National Medical Center (part-time)
- 07/2014-03/2021 | Associate Research Physician. National Human Genome Research Institute (NHGRI).
- 09/2007-03/2021 | Commission Corps officer in the U.S. Public Health Service (retired Captain)
- 09/2007-07/2011 | Senior Medical Officer -Primary Care, U.S. Public Health Service/U.S. Coast Guard
Honors and Awards
- 2026 | Virginia’s Top Doctors 2026: Pediatric Genetics
- 2025 | Rare Disease Ambassador of the Year, GeneDx
- 2019 | GREAT Award for identifying novel causes underlying holoprosencephaly
- 2018 | John Opitz Award
- 2017 | GREAT Award for co-creator of Atlas of Human Malformations in Diverse Populations
- 2013 | U.S. Public Health Service Physician Researcher of the Year
Professional Memberships
- 2025-present | Governor of Virginia’s Committee on Rare Disease
- 2023 | Turner Syndrome International Guideline Committee
- 2022–2025 | ACMG NICU Evidence-Based Guideline Chairperson
- 2021–2025 | ACMG Professional Practice and Guideline Committee Member
- 2019–present | ClinGen Craniosynostosis Gene Curation Expert Panel (GCEP)