Initiative to Aid the Fight Against Rare Diseases

Rare diseases affect fewer than 200,000 people in the United States, but there are more than 6800 types. Many of them are genetic; while in many cases their DNA mutations have been identified, there has been little success in translating that knowledge into treatments.

The University of North Carolina has launched an initiative to create and share tools to fight rare diseases. UNC Catalyst starts with a $2 million grant and will recruit, train, and fund research scientists. Eshelman Institute for Innovation is providing the grant.

“Science has cracked the human genome, but translating that knowledge into new medicines has been painfully slow,” Bob Blouin, PharmD, director of the Eshelman Institute and dean of the Eshelman School of Pharmacy, said in a statement. “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 lack of high-quality research tools for rare diseases and the limited number of researchers trained in the field have also been a reason why there has been little progress in moving from understanding the genetic foundations of disease to treatment.

Through a partnership with Structural Genomics Consortium, an international public-private partnership, and rare disease groups, scientists will be able to create new tools to study rare diseases that could lead to new treatments. Researchers from around the world will have access to tools created through 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, one of the rare disease groups partnering with UNC Catalyst. “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.”