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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… and webbing of the fingers of the hand on the same side. … Genetic Disorders …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… condition that alters development in females. … Genetic Disorders …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… are associated with clots in the arteries and veins. … Genetic Disorders …
Health
Resources about genetic diseases and the importance of knowing your family health history.
… Genetic diseases impact not only patients but their whole families. These resources will help you understand genetic diseases and the importance of knowing your family … Content … For Patients and Families … Resources about genetic diseases and the importance of knowing your family …
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
… Nicola Sugden Understanding ableism in abstracts for genetic and genomic autism research PB2437 Erin Mansell … study of neural tube defects allows an unbiased search for genetic contribution. PB2092 Ted Han Genome wide CRISPR … associated with canine body size. PB1092 Yixing Han Common Genetic Variants are Associated with Plasma and Skin …
Healthcare Provider Education Resources
An online repository of peer-reviewed collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician assistants, and physicians.
… collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician … collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician … collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… in a single gene. Such diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one generation to the … Such factors may directly cause disease, or interact with genetic factors to cause or increase the severity of disease. …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when they are unable to find a diagnosis … entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals with known or suspected genetic diseases, including metabolic diseases. You can read …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when they are unable to find a diagnosis … entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals of all ages (despite its title) with known or suspected genetic diseases. You can read about this study by going to …