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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- 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
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice directed against people who have or may have a genetic disease. … Genetic Discrimination, GINA, Genetic Information …
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. … … the disorder from both parents. When both parents have the genetic defect, there's a 25 percent chance that each child … some parents may choose not to continue the pregnancy. Genetic counselors can help parents make these difficult …
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 from parent to child is linked to one or … and to understand their function. One of these tools is genetic mapping. Genetic mapping - also called linkage …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … UDP researchers the opportunity to gain new insights about genetic and biochemical mechanisms of disease and insights … 19, 2019: Undiagnosed disease program finds novel genetic variant UAB News 2018 September 24, 2018: The NIH …
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 … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … Genetic … genetic tests designed to help estimate the risk of a disease. The genetic counselor conveys information to address …
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.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease development. The findings, published today in the …
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 known physical … … Genetic Marker, DNA Sequence, Chromosome, Genetic Disease, Inheritance … A genetic marker is a DNA sequence … a chromosome. Genetic markers can help link an inherited disease with the responsible gene. DNA segments close to each …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … In 2011, Dr. Gahl and his UDP colleagues identified the genetic difference in the NT5E gene that causes a rare and … Dr. Gahl said. Once researchers better understand this genetic pathway, it could be relevant to the study of viruses …
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 the … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic …