GUARDIAN Study: Genomic Newborn Screening Will Transform the Rare Disease Landscape
Paul Kruszka, MD, MPH, FACMG
The GUARDIAN offers proof of principle that we can implement advanced genomic testing on a large scale
Paul Kruszka, MD, MPH, FACMG
Paul Kruszka, MD, MPH, FACMG, is chief medical officer of GeneDx, with responsibility for leading genomic research in rare diseases and promoting access to genomic medicine, as well as a clinical geneticist at Children's National Hospital in Washington, DC.
Kruszka is a board-certified clinical geneticist who uses genomic and precision medicine to enhance the delivery of health care to individuals with rare diseases. His career is motivated by the idea that genetic technology can be used to have a beneficial impact on people’s lives and that there are still many challenges to implementing genomic medicine.
Prior to working at GeneDx, Kruszka spent a decade at the National Institutes of Health conducting genomic research and taking care of individuals with rare genetic diseases. He is credited with the clinical and molecular delineation of multiple novel genetic conditions.