UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

University of North Carolina at Chapel HillJan 5 2017

Freely giving researchers the tools and knowledge to tackle rare and orphaned diseases is the mission of UNC Catalyst, a new endeavor the University of North Carolina at Chapel Hill has launched with a $2 million grant from the Eshelman Institute for Innovation. UNC Catalyst will provide patient groups and rare-disease organizations with the knowledge and research tools to train scientists to create new treatments.

"Science has cracked the human genome, but translating that knowledge into new medicines has been painfully slow," said Bob Blouin, director of the Eshelman institute and dean of the Eshelman School of Pharmacy. "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."

According to the National Institutes of Health, a rare or orphan disease in the U.S. affects fewer than 200,000 people. There are more than 6,800 rare diseases. Many are genetic, often caused by a single-gene mutation and include conditions such as cystic fibrosis, Huntington's disease and muscular dystrophy.

Over the past decade, the DNA mutations associated with many rare diseases have been identified, but there has been little success moving from knowledge of the gene to a treatment. Other factors include a lack of high-quality research tools available for these diseases and too few researchers trained to work in the field.

UNC Catalyst will partner with the international Structural Genomics Consortium and rare disease groups, such as the Genetic Alliance, to recruit, train and fund research scientists. These scientists will create tools needed to study the physical effects these genetic mutations have on the body and create a framework for designing a new treatment. To magnify and accelerate the impact of this initiative, researchers across the globe will have unrestricted access to the research tools generated by UNC Catalyst.

"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. "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."

Working in partnership with the Structural Genomics Consortium and Genetic Alliance, the UNC Catalyst for Rare Diseases will create a dedicated laboratory and data hub at UNC-Chapel Hill.