Genetics of Tuberous Sclerosis Complex and Related Neurodevelopmental Disorders

Investigators at Boston Children’s Hospital are conducting research in order to identify genomic abnormalities in patients with TSC outside of the TSC1 and TSC2 genes that may contribute to the neurological manifestations and thus explain the large spectrum of neurological outcomes seen in families with TSC. Any individual with TSC and/or a related neurodevelopmental disorder and his or her family members are eligible to participate. 

We hope that the knowledge gained from this trial will lead to a better understanding of TSC and to new forms of diagnosis and treatment, to benefit children and adults with TSC in the future.

For more information please contact study coordinator Mia Diplock at 617-919-1476 or amelia.diplock@childrens.harvard.edu.

Study Flyer: Genetics of Tuberous Sclerosis and Related Neurodevelopmental Disorders.