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Curable Launches Primary Sclerosing Cholangitis Genome Project

NEW YORK (GenomeWeb) – Pittsburgh-based non-profit research organization Curable has launched a new sequencing project, focusing on the rare autoimmune disease primary sclerosing cholangitis (PSC).

In partnership with the Mayo Clinic and the Regeneron Genetics Center, Curable's International PSC Genome Project is aiming to conduct the largest sequencing project to date for the disease, which affects the bile ducts and can lead to liver failure. According to a 2003 study published in the Journal of Gastroenterology and Hepatology, the disease incidence is approximately one to four individuals per 100,000 people in the US. Curable said in a statement that there are no known causes or effective therapies, aside from organ transplant.

Researchers involved in the initiative will sequence the genomes of at least 5,000 PSC patients as well as healthy controls to get a lead on any genes that may contribute to the disease phenotype. Mayo is contributing more than 3,000 DNA samples, including 1,200 from PSC patients, while Regeneron is contributing sequencing and analysis services.

"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," Mayo Clinic gastroenterologist and hepatologist Konstantinos Lazaridis said in a statement.

Such large-scale projects increase the effectiveness of R&D, added Curable CEO Lisa Boyette. "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," she said. Boyette launched Curable in 2014 to accelerate research on PSC, which her brother has, but has plans to expand the organizational model to other rare diseases.

Last month, scientists at the University of Colorado School of Medicine led a GWAS study showing that a genetic locus associated with vitiligo, an autoimmune disease targeting pigment-producing melanocytes, is also linked to PSC.

Curable said in a statement that coalition participants could analyze the data collected during the project and publish findings based on it.

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