The Undiagnosed and Rare Disease Clinic (URDC) launched in January 2020 and has already seen success. Researchers affiliated with the clinic help patients who may have genetically-based rare diseases, when other doctors have not been able to determine a diagnosis. The clinic is led by Erin Conboy, MD.

"The URDC is there as a resource for families who are still on the hunt for answers," said Conboy. "We're not going to give up. We're going to keep looking, if it takes discovering a new gene to be able to diagnose your child, we're going to try to do that."

One of the clinic's first patients was Jordan Edwards, a young girl who was having trouble eating and was barely gaining any weight. The URDC team performed genetic testing on each member of her family, and discovered Jordan has a rare genetic disorder that impacts her feeding abilities. In addition to that, the research team learned Jordan's mother and older sister have a mild form of the disorder as well.

"It's very important because I believe parents deserve to know what's going on with their children," said Desiree Edwards, who is Jordan's mother. "The URDC is a really great clinic. They helped us understand what she's going through and what the genetic disorder is."

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. Since most known mutations that cause disease are found in exons, whole exome sequencing is an efficient way to find those possible mutations. 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.

The URDC is currently funded by the IU Grand Challenge Precision Health Initiative.