The Undiagnosed Rare Disease Clinic, directed by Erin Conboy, MD, was launched in January 2020. Patients include those who likely have a rare undiagnosed disease that has a high likelihood of a genetic cause. 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).
Patients meet with the medical geneticist and genetic counselor, who conduct a detailed review the patient’s health history, family history and previous genetic testing. Patient samples are obtained at this visit for genome sequencing, RNA sequencing and metabolic testing. The genome sequencing is processed, analyzed and interpreted with the help of Emedgene, a genomic interpretation platform that incorporates advanced artificial intelligence which combines the use of detailed phenotypic information and genomic annotations present in databases. The genomic variant analysis and interpretation is completed by a multidisciplinary team who discuss the final interpretation before making recommendations in a final report.
A forum for a multidisciplinary team of clinical providers, laboratorians, researchers, and students called the Genome Board reviews and discusses the cases of patients after being seen in the clinic. The team has a detailed discussion of variants, genomic, transcriptomic, and metabolic information to help determine if an underlying cause of the patient’s symptoms can be found. Genome Board is held every other Friday at 12 pm. Please contact Lili Mantcheva to be added to the Genome Board invitation list.
The Undiagnosed Rare Disease Clinic is currently funded by an IU Precision Health Initiative grant.