Drs. Sherri Bale, John Compton & Gabriele Richard were honored at FIRST's 2016 Testimonial Dinner on March 4, 2016 at the City Club of Washington in Washington, DC

In 1991, Dr. Sherri Bale and Dr. John Compton, internationally recognized for their work in the field of inherited disease, and founders of GeneDx, met for the first time while working in the Genetics Studies Section of the Laboratory of Skin Biology at the National Institutes of Health (NIH).

Sharing a common vision to provide better medical resources for the rare disease community, their goal was to make clinical testing available to people with rare genetic conditions and their families. To that end, hey left the NIH and opened the doors to GeneDx in 2000 and began this specialized genetic testing, starting with disorders of cornification. Dr. Gabriele Richard joined the team in 2005, after serving as Associate Professor for Dermatology and Genetics at the Thomas Jefferson University in Philadelphia, Pennsylvania, and co-director of the Molecular Diagnostics Laboratory at the Department of Dermatology and Cutaneous Biology. Together, their work had led to the discovery of many genes associated with ichthyosis and related skin disorders, and at GeneDx they were able to provide genetic diagnostic services to patients affected with these disorders.

However, Sherri, John, and Gabriele’s dedication to the ichthyosis community goes far beyond their work in the laboratory and genetic testing. Their care and compassion for FIRST and its members is extraordinary. Sherri currently serves as a genetics expert on FIRST’s Medical and Scientific Board (MSAB) and actively served on the Board of Directors for four years, from 2009 to 2012. Gabriele is currently a member of the Board of Directors, co-chairperson of FIRST’s Board Development Committee, and a member of the MSAB. Through John’s 18 years of support, the organization has grown to be the global leader in patient advocacy for ichthyosis. They are always ready to provide advice, answer a question, or help explain the complex world of genetics and its importance to ichthyosis families. FIRST is grateful for their continuing commitment and support of its mission.


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