National Human Genome Research Institute (nhgri)

This phase 2 trial tests whether a daily pill called miransertib can slow or stop the abnormal tissue overgrowth seen in Proteus syndrome, a rare genetic condition. About 38 people aged 3 and older will take the drug for up to 4 years. Researchers will measure changes in foot ove…

This study collects and analyzes blood, DNA, and tissue samples from 315 adults with pulmonary fibrosis, their relatives, and healthy volunteers. The goal is to learn more about the disease's causes, not to test a new treatment. Researchers hope the findings will guide future the…

This study is sequencing the genes of 1665 people aged 45 to 65 to learn how genetic changes relate to health, especially heart disease. Participants provide blood samples and undergo heart tests. The goal is to improve methods for interpreting genetic data and understand how res…

This study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…

This study enrolls 1,000 people who already have genetic sequencing data and may have unexpected gene variants. Researchers will collect health information, family history, and samples to see how these variants affect traits and health. The goal is to build a resource for scienti…

This study aims to understand how genes affect obesity, diabetes, and heart disease in people of African ancestry. Researchers will collect blood samples and health information from 1,100 adults, including African Americans, Afro-Caribbeans, and migrants from sub-Saharan Africa. …

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…