Ongoing Genetic Studies
See below for ongoing studies.
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.
Did you receive an unexpected genetic test result related to TSC?
A new study is recruiting people (and parents of children) who had genetic testing done for some other reason and received results related to TSC. The goal of this study is to learn what people think about, and how they use results like this. For more information, please visit www.genome.gov/gsrp. If you are interested, please contact us at firstname.lastname@example.org, 301-402-6871, https://www.surveymonkey.com/r/gsrpreferral