Curable, a nonprofit research accelerator that applies engineering approaches to medicine to develop solutions for rare diseases, has announced the initiation of the International PSC Genome Project, which includes the Regeneron Genetics Center (RGC, a wholly-owned subsidiary of Regeneron Pharmaceuticals) and the Mayo Clinic with the goal of conducting the largest sequencing project for primary sclerosing cholangitis (PSC) to date.

PSC is an autoimmune disease of the bile ducts that leads to liver failure. There are about 50,000 patients with PSC in the U.S. today. No one knows what causes this disease, and there are currently no effective medical therapies.

During this project, the RGC will sequence 5,000 or more PSC patients, as well as samples from healthy volunteers to help identify the genetic underpinnings of PSC. Mayo Clinic is contributing over 3,000 DNA samples from appropriately consented volunteers, including over 1,200 samples from PSC patients. Curable is establishing a coalition of nonprofit institutions to participate in this project and the RGC is bringing its sequencing and analytical capabilities to the table.

“We are excited to be working with Regeneron on this important global project,” said Curable Chief Executive Officer Lisa Boyette, M.D., Ph.D. “At Curable, we firmly believe that it is this type of large-scale collaborative effort that will dramatically accelerate the R&D process. That progress will enable us to deliver the new therapeutics and early diagnostic in phase II clinical trials that we have promised our customers, who are PSC patients, in five years.”

“Through sequencing and genetic analysis, we will be able to learn more about the genetic basis of PSC and hope to uncover actionable findings for drug discovery and genomic medicine,” said Aris Baras, M.D., vice president and co-head of the RGC. “Regeneron’s goal is to advance the development of new and improved medicines for people in need, and working with dedicated organizations like Curable and the Mayo Clinic helps us further this collective mission.”

All of the coalition collaborators and the RGC will be able to analyze the genetic data and publish their findings.

“This focus on awareness, matchmaking, and effectively leveraging resources to achieve transformational solutions for underserved patients is what makes Curable unique,” said Dietrich Stephan, Ph.D., chairman of Curable’s board of directors.

“Curable’s approach—with its PSC coalition—is enabling us to pool samples and undertake a much larger study than any of the member institutions could conduct alone,” added Konstantinos Lazaridis, M.D., consultant in Gastroenterology and Hepatology and Professor of Medicine, Mayo Clinic. “I have been taking care of PSC patients for over 20 years, with no real advances to offer them apart from liver transplantation. I am so pleased that through this kind of data sharing and transparency, we will be able to maximize our efforts and provide PSC patients with tangible insights into the genetic basis of their disease.” 

Curable is bringing together the best resources from academia, industry and the nonprofit sector to benefit PSC patients.