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- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… severe emotional disturbance and cognitive decline. In the United States alone, about 30,000 people have HD. In … the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose function is still … lost by nerve degeneration in individuals with HD. Genetic studies: Scientists are continuing to study …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice … … Genetic discrimination. Genetic discrimination refers to the unequal treatment of individuals based on an aspect of their genetic code or …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the United … the disorder from both parents. When both parents have the genetic defect, there's a 25 percent chance that each child …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted … genes and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … Among the main goals of the Human Genome Project (HGP) was to develop new, better …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … of physical traits of people with many different inherited diseases around the world, including Asia, the Indian …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of … UDP researchers the opportunity to gain new insights about genetic and biochemical mechanisms of disease and insights …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family. … Genetic …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… Ph.D. … Media Availability A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most … National Institutes of Diabetes and Digestive and Kidney Diseases; the National Institute on Aging; the National …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
… Genetic Marker … A genetic marker is a DNA sequence with a … Genetic markers can help link an inherited disease with the responsible gene. DNA segments close to each other on a … Genetic markers are used to track the inheritance of a nearby gene that has not yet been identified, but whose …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … In 2011, Dr. Gahl and his UDP colleagues identified the genetic difference in the NT5E gene that causes a rare and …