About the Lab

The Center for Genetic Medicine Research at Children’s National Hospital (an acute and specialty care pediatric hospital in Washington, D.C.) and Invitae Corporation (a CLIA-certified clinical genetic testing laboratory in San Francisco, CA) have formed an innovative partnership to create the first-ever Pediatric Mendelian Genomics Research Center (PMGRC).

The PMGRC is one of 5 genomics research centers participating in the Genomics Research to Elucidate the Genetics of Rare Disease (GREGoR) Consortium, under the National Institutes of Health (NIH).

The purpose of this research study is to better understand how differences in genetic material affect human health and to increase the number of genetic disorders where a cause can be identified. The PMGRC will use new genome analysis technologies to uncover causes of genetic conditions by improving gene discovery and clarifying variants of uncertain significance. The PMGRC will disseminate our discoveries to the clinical and research genetics communities at large.

The Center for Genetic Medicine Research houses a highly interdisciplinary faculty, with nearly half of the physician-scientists coming from clinical divisions in the hospital. We focus on common health problems in Washington, D.C., as well as serve as an international referral site for rare conditions. Faculty and their laboratories are encouraged to be collaborative and many of the Center’s projects bring together multiple clinical and scientific disciplines.