Pediatric Mendelian Genomics Research Center


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.

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Referral to PMGRC

We are recruiting individuals from anywhere in the United States. We expect half of participants to be patients and family members seen through Children's National in Washington, D.C. and the surrounding area (Maryland and Virginia). We expect the other half of participants to be referred from outside of Children's National.

We are seeking to enroll patients and their family members with known or suspected genetic diseases or conditions. If you are interested in being contacted by a member of our team, please complete the form below.

Completing this form does not commit you to participation in our research program. It also does not guarantee you will be selected for participation.