Rare diseases are defined as conditions that affect fewer than 200,000 people in the United States, but as a whole, they make a large impact. The National Institutes of Health estimates that between 25-30 million Americans are living with a rare disease. Experts have determined that most rare diseases are genetic, and they are sometimes passed down from one generation to the next, although that is not always the case.

The IU Precision Health Initiative's Undiagnosed Rare Disease research team is focused on finding answers for families when other doctors have not been able to determine a diagnosis.

The Undiagnosed and Rare Disease Clinic (URDC) launched in January 2020. The URDC program combines the strengths of IU Health clinical care specialists and IU School of Medicine researchers. From the clinical side, specialists look through each patients’ records, review the list of symptoms, and evaluate each patient when they arrive at the clinic.

From the research side, specialists can reevaluate the raw data from a patient's whole exome sequencing test, which involves looking at exons, which are the pieces of an individual’s DNA that provide instructions for making proteins. Researchers may also suggest whole genome sequencing to get a better understanding of genetic changes that may lead to health problems.

This program is focused mainly on pediatrics, but URDC patients may be any age, from newborns to those with adult-onset disorders, who have likely been seen by multiple providers and had extensive testing done, but still haven’t received conclusive results about their condition.