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Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of … that research findings and opportunities derived from genetic and genomic technologies may be translated into … and clinical research, bringing the latest genomic and genetic technologies to the study of human disease. Our …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic … Center and at PathoGenesis Corporation have completed a genetic map for the Pseudomonas aeruginosa bacterium. This …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break … by a medical team including the child's own doctor, and genetic, orthopedic and rehabilitation medicine. Supportive …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… Announcements ( RFA-HG-20-048 and RFA-HG-20-049 )  Can a genetic counselor consultant fulfill the need to have a person with genetic counseling experience on the team? No, a person or persons with genetic counseling experience need(s) to be an integral part …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… and dynamic processes in general that may mediate genetic effects on traits?  Advances in sequencing … or theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: … environmental variation, including societal and structural factors, influencing diseases and traits? What does this mean …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… gastric cancers. They also study the relationship between genetic variation and cancer progression and pursue the … causal sequence variants in DNA from inherited cells of at-risk individuals, in human tumor genomes and in the genomes … The primary focus of CGCGB investigators is to identify the genetic contribution to the processes of cancer …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Research at NHGRI
Families Sharing Health Assessment and Risk Evaluation (SHARE) helps you and your family learn how your family health history affects your risk for diseases.
… 2 Diabetes Heart Disease How to Use the Families SHARE Risk Algorithm  … Below are links to the Families SHARE disease risk worksheets. The worksheets will help you work out family members’ risk for these diseases based on their family health history. … LM . Formative Evaluation of the Families SHARE Disease Risk Tool among Low-Income African Americans . Public Health …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Severe Combined Immunodeficiency is a severe, genetic condition of the immune system. … white blood cells of two young girls to compensate for the genetic mutation. These pioneering patients are still alive … deficiency SCID, commonly called ADA SCID, is a very rare genetic disorder. It is caused by a mutation in the gene that …