Indiana University Health-Indiana University School of Medicine
- Indiana
Director(s): Stephanie M. Ware, MD, PhD
Contact information
IU Medicine Undiagnosed Rare Disease Clinic
The Undiagnosed Rare Disease Clinic, is a clinical research program launched in January 2020 at IU School of Medicine/IU Health. The Undiagnosed Rare Disease Clinic is aimed at finding the genetic underlying cause of rare disease and in doing so provide answers in the form of a genetic diagnosis to patients and their families who are struggling with the uncertainty of an undiagnosed rare disease. This program is focused mainly on pediatrics, but patients may be any age, from newborns to those with adult-onset disorders. Patients have likely been seen by multiple providers and had extensive testing done but still have not received conclusive results about their condition. Specific expected symptoms include multiple congenital anomalies, abnormalities (that you can see on physical exam or as internal organ malformations), patients with severe developmental delays, severe autism, severe seizures or Mendelian disorders (involving one specific gene).
Clinic Lead: Dr. Erin Conboy
Serves children and adults
Accepts internal and external referrals; Referral by healthcare provider is necessary.
For questions about the Undiagnosed Rare Disease Clinic, please contact us at [email protected].
Fax (clinician referrals): 317.274.9012
Undiagnosed Diseases Network (UDN) Clinical Site
The UDN is a research study funded by the National Institutes of Health. There are currently 24 clinical sites, including Indiana University. Participants in the UDN are determined through a central application process.
Serves both children and adults.
844.746.4836
