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New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

April 16, 2020

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile, as 50% of patients do not receive a molecular diagnosis.

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Intercept Pharmaceuticals

We are a biopharmaceutical company focused on the development and commercialization of novel therapeutics to treat progressive, non-viral liver diseases, including primary biliary cholangitis (PBC), nonalcoholic steatohepatitis (NASH), primary sclerosing cholangitis (PSC) and biliary atresia. In a new age of liver disease treatment, our team is developing vital therapies to meet the needs of those living with progressive, non-viral liver disease. We are committed to improving patients’ lives and addressing the liver community’s most pressing needs. Our corporate headquarters is located in New York, and we have additional offices in San Diego, London and Perugia.

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New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

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