GENETIC DISEASE

This study is testing whether a faster genetic sequencing technology can improve how quickly doctors diagnose birth defects and genetic diseases in newborns. It will involve 2,000 babies in neonatal intensive care units who have unexplained health problems. The goal is to see if …

This study is testing whether a speech-generating app on an iPad can help children with dementia communicate. It involves 38 children, ages 3 to 12, who have very limited speech. Each child will try using the device for 6 weeks and also have a 6-week period without it, so researc…

This study aims to learn more about Chopra-Amiel-Gordon Syndrome (CAGS), a rare genetic condition that causes intellectual disability and other health issues. Researchers will follow 125 people with confirmed or suspected CAGS over time, collecting detailed information about thei…

This study aims to build a collection of blood and tissue samples from children with rare autoimmune and autoinflammatory diseases like lupus. Researchers will analyze these samples to identify genetic changes and immune system problems that cause these conditions. The goal is to…

This study aims to understand how rare genetic immune disorders called type 1 interferonopathies progress over time in both children and adults. Researchers will follow 500 European patients to track their symptoms, identify patterns, and find biological markers that could help w…

This study aims to find diagnoses for people with severe, unexplained medical conditions that have eluded doctors. It will enroll up to 20,000 participants across a network of research centers. The main approach involves advanced genetic testing, sharing information between exper…

This study is building a collection of blood and tissue samples from stroke patients. The goal is to store these samples for future research to better understand the genetic causes of stroke. Researchers hope this 'biobank' will help scientists discover new ways to prevent and tr…

This study is building a large collection of genetic samples and health information from patients visiting a genetics clinic. The goal is to store this 'biobank' for future scientists to study, helping them discover how genes work and find new treatment possibilities down the roa…

This study aims to discover the unknown genetic causes behind rare autoinflammatory diseases, where patients experience recurring fevers and inflammation. Researchers will analyze genes and blood samples from 300 patients to identify disease patterns and pathways. The goal is to …

This study aims to understand how well children with a specific genetic form of deafness (DFNB9) can hear and understand sounds after receiving either a new gene therapy or a traditional cochlear implant. Researchers will compare 180 participants, including children who have had …

This study aims to learn more about two rare genetic brain disorders, STXBP1 and SYNGAP1, which cause severe developmental delays and epilepsy. Researchers will follow 600 participants for up to five years, tracking their symptoms and quality of life through regular check-ups and…

This is a large research study following one million families in China to learn how genetics, environment, and lifestyle affect pregnancy and a baby's health. It involves collecting small biological samples from parents and babies over time to analyze their genes and other biolog…