Search Results
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to develop new and more powerful ways to assess people’s genetic risk for developing various diseases. One approach … risk score webpage , which provides graphical and textual information about polygenic risk scores and more! … interpreted. The use of polygenic risk scores (also called genetic scoring and genetic risk scoring) is becoming more …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, … Ongoing efforts include research aimed at understanding genetic contributions to a number of human diseases, …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… the use of pharmacogenomics, which studies how a patient's genetic make-up affects drug responses. A third grant examines the role of genomic information in diagnosing and treating inherited forms of … use of genomic medicine. "We would like to know if adding genetic information makes a difference in doctor's …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … child becomes blind, cognitively impaired, paralyzed and non-responsive. By the time a child with Tay-Sachs is three …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … genetics have been difficult to understand. Numerous genetic and environmental factors can contribute to a person …
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 … aeruginosa. Gene Database Speeds Research As the amount of information about CF grows, scientists have recognized the …
Policies and Guidance
Text, graphics, videos, illustrations and other information on NHGRI websites are in the public domain, unless indicated.
… Text, graphics, videos, illustrations and other information on National Human Genome Research Institute … indicated. You may freely use and distribute this information; however, we request acknowledgement, such as: … please be sure to cite the correct copyright owner. For information about these copyright owners, how they can be …
Policies and Guidance
NHGRI does not collect personally identifiable information about you on genome.gov unless you volunteer to provide it.
… does not disclose, give, sell, or transfer any personal information about visitors to its websites, unless required … protecting your privacy. We will not collect any personal information about you when you visit our website (other than the standard information automatically collected and stored in the Web …