"Whether a patient's relief is in the form of a gene, a disease, a hypothesis, or even that we have left no stone unturned, our mission of finding answers for these individuals and their families is of paramount importance."
- Brian Corner, MS
Certified Genetic Counselor and member of the Potocsnak Center
The Potocsnak Center for Undiagnosed and Rare Disorders and Vanderbilt University Medical Center exists to solve medical mysteries for patients with complicated conditions and rare diseases. Our goal is to provide answers and offer hope to adults and children whose symptoms have not led other health care providers to solutions. Our patients benefit from a team approach involving experts from multiple departments and centers across Vanderbilt University Medical Center. These include the departments of Pediatrics, Internal Medicine, Neurology, Pathology, Surgery, Radiology and Biostatistics, as well as the Center for Precision Medicine, Vanderbilt Center for Structural Biology, and the Vanderbilt Genetics Institute. All in all, more than 50 highly trained, dedicated specialists and scientists working together to end diagnostic odysseys.
Our program’s workflow was designed to assess patients with the aim of maximizing the likelihood of a diagnosis. Our evaluation process is a partnership between the patient and the Potocsnak Center team and varies based on the specific needs of an individual patient’s case. To achieve this goal, applicants meeting the inclusion criteria will undergo an initial screening evaluation visit to assess whether the resources in the program could be helpful to them. Those for whom the program may be of benefit will then be enrolled for full data analysis. Our back-and-forth approach toward a diagnosis can take several months or even years. Our different consultants, scientists, and support staff spend an average of ~300 combined workhours on the evaluation of a patient enrolled in the Center; from the time of the patient’s initial inquiry to the completion of their initial workup. This is compared to a typical patient seen in a traditional specialist clinic requiring ~2-5 workhours. We believe this intensive, personalized approach is a key to unlocking the mysteries of undiagnosed disorders.
Please visit our Eligibility Criteria page to see if you or your patient may be eligible. To read more about how to apply, visit the How to Apply page.