The undiagnosed rare disease clinic program of Indiana University School of Medicine: lessons learned from the first 100 cases enrolled (Phase-I pilot)

Abstract excerpt

Abstract Background The Undiagnosed Rare Disease Clinic (URDC) of Indiana University, established in January 2020, is a multidisciplinary collaborative clinic that focuses on providing genetic diagnoses for patients and families dealing with the uncertainty of an undiagnosed rare disease and/or diagnostic odyssey. Methods To identify rare disease-causing variants underlying the suspected undiagnosed genetic condit...

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• Cystic Fibrosis Research Advances
• Genetic factors in colorectal cancer
• Genomics and Rare Diseases

Identifiers and source

Literature Corpus work

c046bfdd-f953-5f69-b522-98a01d10946f

DOI

10.1186/s13023-026-04567-0