GENETIC DISEASE

This study aims to compare how well children with congenital deafness can hear and understand speech after receiving one of two treatments: a cochlear implant or an experimental gene therapy. Researchers will follow 180 participants to measure their ability to hear speech in nois…

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 health information, br…

This study aims to help people with severe, unexplained medical symptoms find a diagnosis. Researchers will use advanced genetic testing and share information across a national network of medical centers to try to identify rare diseases. The goal is to provide answers to patients…

This study is creating a collection of blood, tissue, and fluid samples from stroke patients and their families. The goal is to store these samples for future research to discover the genetic factors that cause stroke. By understanding these genetics, scientists hope to find bett…

This study is creating a collection of genetic samples and health information from patients. The goal is to help future scientists discover new gene mutations and understand how genes work. This research does not provide direct treatment to participants but aims to build knowledg…

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 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 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…