Ongoing Genetic Study
See below for the ongoing study.
Phenotypic Variability in Tuberous Sclerosis Complex (TSC)
Dr. Narayanan and colleagues at the Translational Genomics Research Institute (TGen) in Phoenix, Arizona are conducting a research study aimed at identifying genetic modifiers of disease severity in TSC.
For this study, we are recruiting families with children of all ages in which a parent and child both have TSC. In particular, we are looking for those families where the parent has little or no neurological problems (mild disease) and the child has severe neurological disease (severity assessed by scoring epilepsy and cognitive symptoms). Our goal is to identify those genetic differences between affected parent and affected child that might account for difference in disease severity. This might eventually allow us to devise a blood test (genetic profile) that might be used to predict disease severity, and initiate disease-modifying treatments before children develop severe symptoms.
What is involved in the study? After appropriate informed consent, participating families will provide samples (blood, and in some cases skin biopsy samples if possible) which will be studied by using the latest in genomic methods.