Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic tests can help to: Diagnose disease Identify gene changes that are responsible for an already diagnosed … or treatment to use for certain individuals Identify gene changes that may increase the risk to develop a disease Identify gene changes that could be passed on to children Screen …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… transporter as a regulator of the CLEAR gene network PB3384 Reuben M Buckley eQTL analysis of canine testes identifies gene expression patterns associated with canine body size. PB1092 …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… is based on clinical findings. Mutations in the CHN1 gene are associated with familial isolated Duane syndrome. Direct sequencing of the CHN1 gene is available as a clinical test, and has to date … a copy of the gene from both parents is needed for expression.) The chromosomal location of the proposed gene …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… of SCID became the first human illness treated by human gene therapy in 1990, a process in which a normal gene was transferred into the defective white blood cells of … common type of SCID is called XSCID because the mutated gene, which normally produces a receptor for activation …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… genetic testing such as chromosome analysis and single-gene testing is done. … There is currently no cure for … and 'secondary,' in which a chromosome abnormality, single-gene disorder or environmental agent can be identified. … cause of autism is a chromosome abnormality or a single-gene alteration, the risk that other brothers and sisters …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. … … and dogs have 78 chromosomes. Human Chromosomes  … A gene is a segment of DNA that provides the cell with … other human. Still, we are different. On average, a human gene will have 1-3 letters that differ from person to person. …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… genomics to identify the etiology of unexplained disease. Gene-Disease Validation Definitive evidence supporting or refuting a claim that variation in a particular gene causes a particular disease in humans, including … Interpretation of genetic test results identified in a gene unrelated to the primary purpose for the testing. Health …
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… , people can respond differently to a medication. A gene that is known to contain variants in some people that … substances, like medications.  For example, the CYP2D6 gene encodes a protein that is involved in the metabolism of … People with certain genomic variants in the CYP2D6 gene can metabolize paroxetine too quickly or too slowly. The …