TUBEROUS SCLEROSIS

This study tests a telehealth therapy for children aged 2-12 with genetic conditions like Fragile X or Angelman syndrome who have intellectual disabilities and challenging behaviors. Over 3-6 months, parents work with a therapist via video calls to learn strategies that promote p…

This study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes used during surgery. The goal is to better understand the root causes of thes…

This research study aims to discover new genes that may cause cancer to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had childhood cancers. Participants will not receive direct treatment o…

This study is for women with lymphangioleiomyomatosis (LAM), a rare lung disease that mainly affects young women. Researchers want to understand how the disease destroys lung tissue at the cellular and genetic level. Up to 2000 participants will help scientists identify the prote…

This study looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will analyze DNA from up to 3,500 people, including healthy volunteers, to find genetic differences linked to lung problems. A small optional part of the s…

This study looks at why people with tuberous sclerosis, a rare genetic condition, develop non-cancerous skin tumors. Researchers will examine skin samples from up to 400 adults to find genetic and protein changes. The goal is to learn more about the disease, not to test a treatme…