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DNA by Michah Baldwin
Rare and orphan diseases are often caused by the mutation of a single gene and include conditions such as cystic fibrosis, Huntington’s disease and muscular dystrophy.

Freely giving researchers the tools and knowledge to tackle rare and orphaned diseases is the mission of UNC Catalyst, a new endeavor of the University of North Carolina at Chapel Hill 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 is one that 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 not been much success moving from knowledge of the gene to a treatment. There is a lack of high-quality research tools available for these diseases and few researchers are 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. 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,” said Sharon Terry, president and CEO of Genetic Alliance. “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 in Chapel Hill.

About the Eshelman Institute

The Eshelman Institute for Innovation provides a mechanism for faculty, staff and students at the UNC Eshelman School of Pharmacy to seek funding for bold, transformative ideas and also provides opportunities to educate and train students and postdoctoral fellows; foster collaboration, creativity and innovation; and stimulate commercialization of intellectual property and entrepreneurial development. The institute was created by $100 million gift from Fred Eshelman, Pharm.D, made in December 2014.

About Genetic Alliance

Genetic Alliance engages individuals, families, and communities to transform health. Founded in 1986, it is the world’s largest nonprofit health advocacy organization network. Genetic Alliance’s network includes more than 1,200 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations. For more information about Genetic Alliance, visit www.geneticalliance.org.

About the Structural Genomics Consortium

The SGC is a non-profit precompetitive public-private partnership that accelerates research in human biology and drug discovery by making all of its research output freely available to the scientific community. To achieve its mission, the organization is building an open and collaborative network of scientists: the SGC has active research facilities at six leading academic institutions across the globe including UNC-Chapel Hill. SGC scientists collaborate with more than 300 researchers in academia and industry. For more information, visit www.thesgc.org.

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