Dr. Vinodh Narayanan at TGen's Center for Rare Childhood Disorders is conducting a study on genetic differences in disease severity for Tuberous Sclerosis Complex (TSC). We are looking for families where the parent has a mild form of the disease and the child has severe neurological disease.
In our study, we are searching for genetic modifiers of disease severity that could account for the variability in symptoms observed within single families, where affected members have the same TSC1 or TSC2 mutation. After completing a consent form, participating families will provide DNA samples (blood, cheek swab or skin biopsy, if possible) which will undergo genomic testing.
We will also collect and examine medical records and school records for each participant. Participants will be assessed by a clinical psychologist, in person or on the phone. Age-appropriate cognitive, behavioral, developmental scores will be assigned.
Our Goal: Early Diagnosis
By identifying genetic differences, we hope to develop a blood test that could predict disease severity, so we could start treatment earlier.
Who Can Enroll?
Parents and children diagnosed with TSC living in the United States. Child must be under the age of 18 and must be severely affected with seizures, cognitive impairment, developmental delay, and/or autism. Parent must present with a mild phenotype. Unaffected parents are also encouraged to enroll, but their participation is not mandatory.
For more information, please contact our Clinical Research Coordinators at TGen's Center for Rare Childhood Disorders at [email protected]
Our Goal: Early Diagnosis
By identifying genetic differences, we hope to develop a blood test that could predict disease severity, so we could start treatment earlier.
Who Can Enroll?
Parents and children diagnosed with TSC living in the United States. Child must be under the age of 18 and must be severely affected with seizures, cognitive impairment, developmental delay, and/or autism. Parent must present with a mild phenotype. Unaffected parents are also encouraged to enroll, but their participation is not mandatory.
EXCLUSIONS: Children 18+ of age and parents who are known to be mosaic for the TSC mutation are not eligible for this study.
For more information, please contact our Clinical Research Coordinators at TGen's Center for Rare Childhood Disorders at [email protected]
