University of North Carolina awarded grant to continue research on rare disease-causing gene mutations

The University of North Carolina at Chapel Hill has been awarded a five-year, $6.2 million renewal grant to continue its work as part of the National Institutes of Health's Rare Diseases Clinical Research Network (RDCRN).

"This additional funding will let us continue our discovery of rare disease-causing gene mutations, which has already culminated in a clinical genetic test, but which needs to be expanded and improved," said Michael Knowles, M.D., a professor in the UNC School of Medicine's Division of Pulmonary and Critical Care Medicine and principal investigator for the RDCRN.

"It will also let us define early adverse clinical events in the infant and childhood studies led by Dr. Margaret Leigh and Dr. Stephanie Davis here at UNC. These advances in diagnostics and pathophysiology are likely to lead to earlier diagnosis and therapeutic interventions, and likely better clinical outcome."