National Human Genome Research Institute (nhgri)

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to learn how it affects their health, development, and behavior over time. Researchers at the National Institutes of Health (NIH) will perform medical exams, genetic tests, and surve…

This study collects blood, lung tissue, and other samples from people with pulmonary fibrosis, their relatives, and healthy volunteers. Researchers analyze these samples to learn what causes the disease and how it progresses. No treatments or medications are tested. The goal is t…

This study looks at the genes of about 1,665 people aged 45 to 65 to learn how gene changes relate to heart disease and other health conditions. Participants donate blood, have heart tests, and may learn about important gene findings. The goal is to improve our understanding of g…

This study aims to understand why people of African ancestry have high rates of type 2 diabetes, obesity, and heart disease. Researchers will collect blood samples and health information from 1,100 adults who identify as African American, Afro-Caribbean, or migrants from sub-Saha…

This study collects health information from 1,000 people who have already had their genes sequenced. Researchers want to see how genetic differences relate to physical traits and health conditions. Participants provide medical history, basic tests, and samples. The goal is to bui…

This study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Up to 1,000 participants, including patients, carriers, and healthy volunteers, will be evaluated annually. The …