UNC Initiative to Create ‘Tools’ for Studies of Rare Diseases, Train Researchers

The University of North Carolina at Chapel Hill recently launched an initiative intended to better equip scientists working to treat rare and orphan diseases, such as Huntington’s disease.

The UNC Catalyst initiative, funded with a $2 million grant from the Eshelman Institute for Innovation, will provide patient groups and disease organizations with the information, resources, and research tools needed to train post-doctoral fellows to investigate new treatments.

“Science has cracked the human genome, but translating that knowledge into new medicines has been painfully slow,” Bob Blouin, director of the Eshelman Institute and dean of the Eshelman School of Pharmacy, said in a news release. “This is especially true for rare diseases, which suffer from a lack of visibility, resources and research expertise. UNC Catalyst will create and freely share the tools and the basic expertise currently missing in the study of many rare conditions.”

The UNC Catalyst laboratory and data hub will be at UNC-Chapel Hill, and tools discovered through this initiative will be made available to researchers worldwide.

A rare disease is defined as a condition that affects fewer than 200,000 people in the United States, according to the National Institutes of Health (NIH). That includes diseases as familiar as Huntington’s, cystic fibrosis, and muscular dystrophy. Collectively, they affect as many as 25 million Americans.

Many of the diseases are inherited and caused by alterations or defects in genes. New gene-caused diseases are discovered every year, but it is challenging to move from knowledge of the gene mutations to finding treatments. Other issues include a lack of high-quality tools to conduct research and a lack of  trained researchers.

UNC Catalyst will partner with the international Structural Genomics Consortium and other rare diseases advocacy organizations to recruit, provide funding for, and train researchers.

“The hundreds of rare disease advocacy organizations in Genetic Alliance’s network will benefit greatly from this partnership,” said Sharon Terry, president and CEO of Genetic Alliance, a rare-disease nonprofit. “We have long worked for an open-science scalable approach to build research tools and support the necessary talent to accelerate solutions to ultimately ameliorate suffering in the millions of individuals affected by rare diseases. This answers that need, and we are delighted to work with these partners.”