Our nationally-recognized pediatric nephrology program is taking great strides to combat Tuberous Sclerosis Complex, a rare genetic disorder that creates small tumors on the major organs of the body. Dr. Alejandro Quiroga, nephrology division chief, talks about our Tuberous Sclerosis Complex clinic and how several specialties work together to effectively treat patients with this condition.

Gabrielle Rushing, PhD, TSC Alliance, introduces the TSC Alliance Whole Genome Sequencing (WGS) Pilot Study. The project aimed to expand the genetic dataset in the TSC Alliance’s Natural History Database (NHD), a valuable resource for researchers of tuberous sclerosis complex (TSC). DNA samples from 20 patients were submitted for WGS. Of these, a known disease variant in TSC1/2 was found in 13 patients. In a further 6 patients, novel variants were identified. Only one sample had no clear variant in TSC1/2. Patients who opted to participate in WGS were also given the option to receive their results alongside genetic counseling. This pilot study has led to the establishment of a larger WGS project that will aim to sequence 500 patients with TSC, to provide a rich dataset for researchers to investigate novel genetic factors and genotype-phenotype correlations. This interview took place at the American Epilepsy Society (AES) Annual Meeting 2022 in Nashville, TN.

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Elizabeth Thiele, MD, PhD Director, Herscot Center for Tuberous Sclerosis Complex
The Neurology of Tuberous Sclerosis Complex: Epilepsy, Cognition and Behavior
Dr. Elizabeth A. Thiele is a neurologist and epileptologist at Massachusetts General Hospital. She is a world-renowned expert in TSC and epilepsy. She organized and established the Herscot Center for Tuberous Sclerosis Complex, a multidisciplinary comprehensive clinical program for TSC, as well as a ketogenic diet clinic to treat and manage patients with epilepsy. She is also the Director of the Pediatric Epilepsy Service at Mass General and a Professor in Neurology at Harvard Medical School. Dr. Thiele's research and clinical interests include the role of diet in epilepsy treatment, genotype-phenotype correlation in TSC, the role of epilepsy surgery in management of intractable epilepsy, outcomes following infantile spasms, and neuropsychological profiles in relationship to tuber number and location in TSC.

Many adults with tuberous sclerosis complex (TSC) experience anxiety in their lives. In this video from the Tuberous Sclerosis Alliance, Brooke Simsa -- an adult with TSC -- discusses the issue with Dr. Darcy Krueger of the TSC Clinic at Cincinnati Children's Hospital Medical Center.

For more information, contact the TS Alliance at (800) 225-6872. Please note: Information in this video is not intended to, nor does it, constitute medical or other advice. Viewers should not take any action regarding medical treatment based on this video without first consulting a physician. The TS Alliance does not promote or recommend any specific treatment, therapy, institution or health plan.

Joop Grevelink, MD, PhD, specializes in general dermatology, skin surgery and laser dermatology at Boston Dermatology and Laser Center and is affiliated with Massachusetts General Hospital. Dr. Grevelink was initially drawn to dermatology because he is a visual learner. With his background in laser engineering, he got involved with tuberous sclerosis complex (TSC) early on and has been performing numerous laser skin treatments for and conducting research with patients afflicted by TSC. Many of his TSC patients have been with him from childhood or adolescence through adulthood. He has also mentored many health care providers throughout his 36-year career in medicine and is excited that Julia Siegel, MD, will continue to care for his patients. He will be retiring soon and is eager to continue to follow new developments and research efforts in TSC.