Curable taps Regeneron, Mayo Clinic for liver disease sequencing scheme

Mayo Clinic
Mayo Clinic is providing more than 1,200 DNA samples from patients with primary sclerosing cholangitis. Image: Arizona State University

Research accelerator Curable is launching an international project to sequence at least 5,000 genomes of patients with an autoimmune disease that can result in liver failure. To aid that effort, it has recruited the Regeneron Genetics Center and Mayo Clinic.

Primary sclerosing cholangitis, or PSC, a condition that causes inflammation and scarring of the bile ducts, affects about 50,000 people in the U.S. This can lead to cirrhosis, or the replacement of liver tissue with scar tissue, and eventually liver failure. The causes of PSC are unclear, and short of liver transplant, current treatments are limited to managing symptoms.

“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 Dr. Aris Baras, vice president and co-head of the Regeneron Genetics Center, in a statement.


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As part of the International PSC Genome Project, the Regeneron Genetics Center will sequence the genomes of 5,000 or more PSC patients, while the Mayo Clinic and the University of Kiel in Germany are contributing nearly 2,500 genomes from consenting PSC patients between them. Pittsburgh-based Curable is on the lookout for other entities to join the project and will also reach out to U.S. patients directly for enrollment in the study, said Curable CEO Dr. Lisa Boyette.

“At Curable, we firmly believe that it is this type of large-scale collaborative effort that will dramatically accelerate the R&D process,” Boyette said in the statement. “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.”

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