Tuberous Sclerosis Complex (TSC) Clinic
Tuberous sclerosis complex (TSC), a genetic disorder that affects 1 in 5,000 individuals, can affect many organs in the body, including the brain, heart, kidneys, lungs and skin. TSC is a lifelong condition in which complications can arise at any time. The most effective means of providing medical care is to use a team approach.
Doris Trauner, M.D., pediatric neurologist, and Keith Vaux M.D., medical geneticist, established a multidisciplinary TSC clinic in 2015. The clinic brings together various specialists in one location so that patients can be seen by several specialists in a single visit. Team members include a nurse manager, pediatric cardiologist, pediatric nephrologist, pediatric pulmonologist and pediatric neuro-oncologist, as well as specialists in pediatric ophthalmology, psychology, dermatology and neurosurgery. The clinic has been approved as a TSC Center by the Tuberous Sclerosis Alliance, a national organization that fosters education, awareness and research on the condition.
Our team includes:
Doris Trauner, M.D., Co-director; pediatric neurologist
Keith Vaux M.D., Co-director; medical geneticist
Cheryl Orphan, Nurse manager
Beth Printz, M.D., Pediatric cardiologist
Peter Yorgin, M.D.., Pediatric nephrologist
James Hagood, M.D., Pediatric pulmonologist
John Crawford, M.D., M.S., Pediatric neuro-oncologist
Research is an important part of the clinic, with a focus on developing a better understanding of TSC and how to treat it. The clinic is currently participating in a multicenter study of the drug everolimus for treating intractable epilepsy in children and adults with TSC. It is also in the planning stages for other clinical trials and collaborates with other TSC centers around the country.
Additionally, the clinic is exploring basic science opportunities related to the m-TOR pathway, which is involved in TSC as well as several other conditions that affect brain development.