Division of Genetic & Genomic Medicine

Led by Eric Vilain, MD, PhD, the MGRC innovates through a partnership between UCI, Children’s National Hospital, an acute and specialty care pediatric hospital in Washington, D.C., and Invitae Corporation, a CLIA-certified clinical genetics testing laboratory in San Francisco, Calif.

The MGRC is one of five genomics research centers participating in the GREGoR Consortium under the NIH. It houses a cohort of interdisciplinary faculty and support staff, including clinical geneticists, translational researchers, genetic counselors, molecular geneticists, bioinformaticians, clinical biochemical geneticists and others. The center’s goals are to:

1. Identify novel causes of Mendelian conditions
2. Disambiguate uncertain variants and investigate the mechanisms of undiagnosed Mendelian conditions, and
3. Disseminate findings to enable translational research on new and rare Mendelian conditions.

Led by an interdisciplinary team, including neurologists Changrui Xiao, MD, and Tahseen Mozaffar, MD, and doctors Eric Vilain and Jose Abdenur, the Diagnostic Center of Excellence in Neurogenetics and Neurometabolism serves as a regional center for the Undiagnosed Diseases Network, a national network of referral sites for patients with undiagnosed rare diseases. This collaborative program leverages clinical and research programs across the UCI ecosystem to bring a wide breadth of experts together with the common aim of facilitating the discovery of rare genetic conditions.

Virginia Kimonis, MD, manages a component of the Rare Diseases Clinical Research Network, focusing on Prader-Willi syndrome, Rett syndrome and Angelman syndrome. While each condition is individually rare, research findings can lead to important insight into treatment strategies for these conditions and may have major implications for other disorders.

In addition to his clinical expertise in working with individuals with cardiomyopathies and congenital heart disease, Michael Zaragoza, MD, PhD, runs the Cardiogenomics Clinical and Research Program, which is focused on identifying and characterizing the genetic variants that contribute to the risk for these conditions.