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UNC awarded $6.2 million renewal grant by NIH Rare Diseases Research Network

CHAPEL HILL 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."

Within the RDCRN, UNC is the lead institution in a study of rare genetic airways disorders, such as cystic fibrosis and primary ciliary dyskinesia. UNC also heads a multi-center group within the network, called the Genetic Diseases of Mucociliary Clearance Consortium (GDMCC). Other institutions in the consortium reporting to UNC include Washington University in St. Louis, The Children's Hospital in Denver, Colo., Children's Hospital & Regional Medical Center in Seattle, Wash., the National Institute of Allergy and Infectious Diseases (NIAID), Lucille Packer Children's Hospital at Stanford University, and the Hospital for Sick Children in Toronto.

In addition to Knowles, UNC faculty and staff involved in the project include Margaret Leigh, M.D., professor, and Stephanie Davis, M.D., associate professor, both in the Department of Pediatrics; Susan Minnix, a nursing education clinician who is serving as national coordinator for the consortium; and Maimoona Zariwala, Ph.D., a research assistant professor in the Department of Pathology and Laboratory Medicine.

Since its creation in 2003, the RDCRN has enrolled over 5,000 patients in 37 clinical studies in rare diseases. Patient recruitment for clinical studies is a fundamental challenge in rare diseases research because there are typically so few affected patients in any one area. The RDCRN was designed to address this problem by fostering collaboration among scientists and shared access to geographically distributed research resources. Network consortia have also established training programs for clinical investigators who are interested in rare diseases research.

Officially, a rare disease is defined as a disease or condition affecting fewer than 200,000 persons in the United States. About 6,000 such disorders have been identified, impacting an estimated 25 million Americans. Few drug companies conduct research into rare diseases since there is little chance to recoup the costs of developing treatments for such small, geographically dispersed populations.


Contact: Tom Hughes
University of North Carolina School of Medicine

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