The NYU Undiagnosed Diseases Program (UDP) is a research initiative of the Center for Human Genetics & Genomics dedicated to uncovering the genetic causes of rare and unexplained conditions in both children and adults. Many individuals and families with likely genetic conditions remain undiagnosed even after receiving the full extent of clinically available evaluations and genetic testing. Our goal is to help identify the underlying cause of their condition and contribute new insights for rare genetic diseases.

The program enrolls participants with suspected genetic disorders who have undergone maximal clinical testing but still lack a definitive molecular-genetic diagnosis. Our multidisciplinary team reviews each participant’s medical history, family history, and prior genetic testing to determine the most informative research approaches for their case. We use the latest genomics technologies and analytic approaches, as well as customized laboratory assays, to identify and validate potential disease-causing variants. When a genetic diagnosis is identified, results are returned to the participant and their care team. Through this work, the NYU UDP seeks to provide clarity for families, improve our ability to diagnose all individuals with rare genetic diseases, and make discoveries that advance our understanding and care of rare genetic diseases.

Referrals to the NYU UDP may be made via our webform or by e-mailing UDP@NYULangone.org.