UNC Health Care

UNC awarded $6.25 million renewal grant by NIH Rare Diseases Research Network

Media contact: Tom Hughes, 984-974-1151,

Wednesday, Oct. 8, 2014

The University of North Carolina at Chapel Hill has been awarded a five-year, $6.25 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 allow us to continue our ongoing studies aimed at discovery of rare disease-causing gene mutations,” said Michael Knowles, MD, who is principal investigator for the RDCRN. Dr. Knowles is a professor in the UNC School of Medicine’s Division of Pulmonary and Critical Care Medicine and member of the Marsico Lung Institute/UNC Cystic Fibrosis Research Center.

“It will also enable us to begin new projects that include use of a 32-gene genetic test panel for primary ciliary dyskinesia (PCD), which can simultaneously test for mutations in all those genes to diagnose PCD, and a study of 260 adult patients with idiopathic bronchiectasis, which includes assessment of clinical disease, and underlying genetics,” Dr. Knowles said.

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, Indiana University, The Children’s Hospital in Denver, Colo., Children’s Hospital & Regional Medical Center in Seattle, Wash., the National Heart, Lung and Blood Institute, 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 co-principal investigator Margaret Leigh, MD, a professor in UNC’s Department of Pediatrics; Veronica Moore, Research Coordinator, a who is serving as national coordinator for the consortium; and Maimoona Zariwala, PhD, a research associate 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.