TUBEROUS SCLEROSIS

This study tests a telehealth therapy program for children aged 2-12 with genetic syndromes 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 pr…

This study is creating a large collection of blood, DNA, and tissue samples along with health information from up to 5,000 people with tuberous sclerosis complex (TSC) or a related condition called LAM. Researchers will use these samples and data to better understand how TSC affe…

This study aims to understand why a rare lung disease called LAM destroys lung tissue in women of childbearing age. Researchers will analyze cells, proteins, and genes from up to 2,000 participants to find the root causes. The goal is to pave the way for more effective treatments…

This study looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will study the DNA of up to 3,500 people with and without lung disease to find genetic differences. The goal is to better understand what causes these dise…

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 placed in the brain. The goal is to better understand the root causes of thes…

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…

This research study aims to discover new genes that may increase the risk of childhood cancer. Researchers will collect blood samples and health information from 1,500 people in families where cancer clusters. The goal is to build a registry and sample bank to help future diagnos…