UC Irvine researchers are dedicated to finding genetic clues and mutations behind rare and debilitating childhood diseases. What they and others in their field are learning about these disorders, which may impact only a few, is paving the way to a greater understanding of diseases that affect millions.
For example, Virginia Kimonis, MD, and her research team are establishing UC Irvine as a leader in the field of genetics and metabolism. Kimonis also manages a section of the National Institutes of Health's Rare Diseases Clinical Research Network, which is dedicated to Prader-Willi, Rett and Angelman syndromes.
In addition to treating Prader-Willi patients with novel approaches, the Kimonis team is building a national database of those with the disease, as well as designing studies to identify promising therapies.
With leading-edge genomic sequencing and old-fashioned scientific sleuthing, physician-researchers such as Kimonis and other faculty members of the Department of Pediatrics' Division of Genetic and Genomic Medicine are in the vanguard of modern medicine, finding novel therapies where none seemed possible.
Support our research today: Give to the Pediatric Genetics & Metabolism Rare and Undiagnosed Diseases fund ›
For more information, contact Valerie Amador, senior director of development for the Department of Pediatrics, UC Irvine Health Advancement, at 949-824-3950 or firstname.lastname@example.org.