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 6 weeks and also have a period without it, so the researchers can compa…

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 grow disease-affected cells in a lab. The goal is to develop better ways to study genetic diseases and test new treat…

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. The goal is to store high-quality samples and medical data for future research into the genetics and biology of …

This study gathers information from 500 children with severe, early-onset obesity to learn which genes may be involved. Researchers will look at genetic test results and track body mass index over time. No treatment or intervention is given—this is purely an observational databas…

This study aims to learn more about STXBP1 and SYNGAP1 related disorders, which cause developmental delays, seizures, and intellectual disability. Researchers will follow 600 participants of any age who have a confirmed mutation in one of these genes, tracking their development, …

This study collects blood samples from 400 children and their relatives to find genetic and immune system abnormalities in rare autoimmune and autoinflammatory diseases like lupus. The goal is to create a biological sample bank for future research. No treatments or interventions …

This study aims to collect information from 125 people with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS), a rare genetic condition. Researchers will track symptoms, brain images, learning challenges, and genetic data over time. The goal is to build a detailed regist…

This study compares how well people with severe hearing loss can hear and understand speech after receiving either gene therapy or a cochlear implant. Researchers will also include people with normal hearing for comparison. The goal is to understand the benefits of each treatment…

This study is for people who have severe, unexplained symptoms that doctors haven't been able to diagnose. Researchers will use advanced genetic testing and detailed medical exams to try to find the cause. The goal is to give patients and their families answers and improve care f…

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 better understand how genes work and what causes genetic diseases. Participants must be new patients at the…

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 find the cause of their condition more quickly and tailor treatments to each…

This study uses a special camera (adaptive optics) to take detailed pictures of the back of the eye in people with inherited retinal diseases. Researchers want to understand how the disease affects light-sensing cells and blood vessels. The goal is to find better ways to track di…

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 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 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 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…