National Human Genome Research Institute (nhgri)

This study is testing a one-time intravenous (IV) gene therapy for children with GM1 gangliosidosis, a rare and fatal genetic disorder that destroys nerve cells. The therapy aims to deliver a working copy of a missing gene so the body can produce a vital enzyme, potentially slowi…

This study is testing whether a drug called miransertib can safely slow or stop the abnormal tissue overgrowth caused by Proteus syndrome, a rare and serious genetic condition. It will involve about 45 participants aged 3 and older who have a confirmed diagnosis. Participants wil…

This study is testing if a nutritional supplement called ManNAc can help control a serious kidney disease called FSGS. It aims to see if taking ManNAc twice daily for 12 weeks safely reduces the amount of protein lost in urine, which is a key sign of kidney damage. The study will…

This study monitors people with cystinosis, a rare inherited disease that causes kidney failure and organ damage, who are taking the medication cysteamine. Researchers will follow 330 patients over many years to track how well the treatment works and watch for any new complicatio…

This study is testing whether new software called Motion Reset can reduce motion sickness symptoms during virtual reality use. Healthy adults aged 18-60 will try different VR experiences and play a game while reporting any discomfort. Researchers want to see if this software help…

This study aims to discover the genetic causes of high blood pressure that starts in childhood. Researchers will follow over 2,300 children, adults who had it as kids, and their healthy relatives for up to 10 years, collecting blood, urine, and health data. The goal is to map the…

This study aims to learn more about Proteus syndrome, a rare condition that causes unusual and uneven growth of bones, skin, and other tissues. Researchers will observe up to 1,500 patients over time to understand the genetic causes, how symptoms change, and the disease's impact …

This study aims to better understand congenital disorders of glycosylation (CDGs), rare conditions where the body has trouble attaching sugar molecules to proteins and fats. Researchers will observe and collect health information from people ages 1 month to 80 years who have or a…

This study aims to learn more about a rare, inherited blood disorder called FPDMM, which is caused by a change in the RUNX1 gene. Researchers will follow 1,000 participants and their family members over many years to understand how the disease develops and changes over time. The …

This study aims to discover the genetic roots of rare diseases that cause recurring fevers and inflammation, like Familial Mediterranean Fever. It will enroll 5,000 people, including patients, their family members, and healthy volunteers, to collect DNA samples and medical histor…

This study aims to understand how the stress of long-term caregiving affects a person's health and well-being over many years. Researchers will follow 2,800 caregivers for up to five years, using surveys, interviews, and optional blood tests to track changes in their social life,…

This NIH study aims to understand why infections often cause serious health declines in people with mitochondrial diseases—rare disorders where the body's cells struggle to produce energy. Researchers will observe 500 participants, including patients and some healthy volunteers, …

This study aims to discover the genetic causes of rare disorders like intellectual disabilities and birth anomalies that currently have no known genetic explanation. Researchers will use advanced genome sequencing technology to analyze DNA from about 2000 affected individuals and…

This study aims to deeply understand alkaptonuria, a rare genetic disease that causes arthritis, bone fractures, and tissue discoloration. Researchers will observe up to 300 patients over several years, using modern scans and tests to track how the disease develops and affects th…

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 aims to understand how a group of rare, fatal brain disorders progress over time. Researchers will observe up to 200 patients with confirmed diagnoses, tracking their health through exams, surveys, and sample collection. The goal is to map the course of these diseases …

This study aims to better understand Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes albinism, bleeding problems, and serious lung and organ complications. Researchers will evaluate up to 600 participants with HPS or their family members to track the disease…

This study aims to better understand propionic acidemia, a rare genetic disorder where the body cannot properly break down certain parts of food. Researchers will observe over 1,000 participants, including people with the condition and some family members, over several years thro…

This study aims to learn more about GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers will observe up to 125 participants over time to understand how the disease progresses, what symptoms occur, and to find marke…

This research program aims to learn how people understand and act on unexpected genetic findings that could impact their health, even if those findings weren't the original reason for their genetic test. Researchers are enrolling 5,000 people who have received such findings to co…

This study aims to diagnose people with rare, inherited genetic disorders and learn more about how these conditions develop and progress over time. Researchers will examine and test participants using standard medical procedures to better understand these diseases. The main goal …

This study aims to gather detailed health and genetic information from people with genetic conditions and their family members. Researchers will use this data to develop and test new computer tools to better understand how these rare diseases work. The goal is to improve future r…

This study aims to better understand Chediak-Higashi syndrome (CHS), a rare and serious genetic disorder. Researchers will observe and test up to 60 patients to map the full range of symptoms and investigate the underlying genetic causes. The goal is to gather knowledge to help g…

This study aims to find genetic causes for rare and undiagnosed diseases in children, focusing on families living outside the United States where access to genetic testing has been limited. Researchers will use advanced genetic sequencing techniques on samples from children and t…

This study aims to understand why some people with sickle cell disease develop immune responses against donated blood after transfusions. Researchers will compare the genes of patients who have these reactions with those who don't. The goal is to identify genetic factors that inc…

This study aims to better understand a group of rare genetic disorders that affect how the body processes certain chemicals, which can cause problems with the brain, blood, kidneys, and immune system. Researchers will observe up to 999 participants, including people with these di…

This study aims to discover the genetic factors that contribute to type 2 diabetes and related conditions like high blood pressure in people of African ancestry, particularly the Yoruba population in Nigeria. Researchers will collect health data and DNA samples from 10,000 partic…

This study aims to understand the community of tiny organisms (like bacteria and fungi) that live on human skin. Researchers will compare the skin microbes of healthy people to those with moderate-to-severe eczema (atopic dermatitis) and some rare immune disorders. By taking skin…

This study aims to understand why autoimmune diseases like lupus and rheumatoid arthritis often appear earlier and are more severe in people of Peruvian ancestry compared to European populations. Researchers will collect blood, urine, and stool samples from 300 participants with …

This study aims to understand why some pregnant women get unusual results from a common prenatal DNA blood test. Researchers want to learn if these unexpected results can sometimes be an early sign of cancer in the mother, not a problem with the baby. They will follow women who h…

This study aims to better understand methylmalonic acidemia (MMA), a rare and serious inherited metabolic disorder. Researchers will observe over 2,000 patients to learn how the disease progresses, identify complications, and find biological markers. The goal is to gather essenti…