GENETIC DISEASE

This study tests whether a special iPad app that generates speech can help children with childhood dementia communicate better. The trial will include 38 children aged 3 to 12. Each child will use the app for a period and also have a period without it, so the team can compare how…

This study collects blood, skin, or urine samples from people with genetic diseases and healthy volunteers. Researchers will turn these samples into stem cells to study how diseases work and test new treatments in the lab. The goal is to improve lab methods, not to treat particip…

This study looks for new genes and biological clues in 300 people with rare autoinflammatory diseases (SAIDs). Researchers will use advanced genetic testing and blood analysis to find disease-causing mutations and unique immune patterns. The goal is to better understand these con…

This study aims to learn more about a group of rare genetic diseases called type 1 interferonopathies, which cause the immune system to be overactive and can affect the brain, joints, and blood. Researchers will follow 500 children and adults with these conditions over time to tr…

This study follows 600 people of any age who have a genetic change in the STXBP1 or SYNGAP1 gene. Researchers will track development, seizures, and quality of life over time using standard tests. The goal is to better understand these rare disorders and prepare for future clinica…

This study will follow up to 1,000,000 families, including pregnant women and their newborns, over many years. Researchers will collect blood and other samples to analyze the babies' complete genetic code and other biological data. The goal is to find new ways to predict, prevent…

This study is collecting blood and other biological samples from 400 children and their relatives who have rare autoimmune or autoinflammatory diseases like lupus. The goal is to find genetic mutations that cause these conditions. No treatments are tested; this is purely a resear…

This study is for people with severe, unexplained symptoms who have not received a diagnosis despite seeing many doctors. Researchers will use advanced genetic testing and thorough medical exams to try to find the cause. The goal is to give patients and their families answers and…

This study looks at how well people with severe hearing loss can understand speech after receiving either a cochlear implant or gene therapy. Researchers will compare the two groups to see which approach leads to better hearing and speech skills. The goal is to learn more about h…

This study aims to better understand Chopra-Amiel-Gordon Syndrome (CAGS), a rare genetic disorder. Researchers will follow up to 125 people with confirmed or suspected CAGS over time, collecting medical history, brain scans, genetic data, and quality-of-life information. The goal…

This study is testing whether advanced genetic testing can help doctors diagnose birth defects and genetic diseases faster in newborns in intensive care. By analyzing the babies' DNA, researchers hope to improve diagnosis rates and guide personalized treatments. The study will en…

This study collects blood or tissue samples and medical information from 3600 people visiting a genetics clinic. The goal is to store these materials for future research to learn more about how genes work. Participants must be new patients at the clinic and understand Dutch.

This study follows 500 adults (400 with mitochondrial disease and 100 healthy or other-disease controls) for up to 10 years. Researchers collect medical data and samples to build a biobank, aiming to better understand how the disease progresses and to improve future diagnosis and…

This study is creating a biobank of blood, spinal fluid, and tissue samples from 500 Chinese adults—including stroke patients, their families, and healthy volunteers. Researchers will use these samples to study the genetics of stroke and related blood vessel diseases, hoping to f…