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- Ethical, Legal and Social Implications (ELSI) Research Program2
- 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
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn screening is testing performed on newborn babies to detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading … but they may also occur spontaneously. When discussing how genetic conditions are passed on in a family, it is important … have been diagnosed with the disorder already and whether genetic testing has been performed in other relatives). In …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… believe that DS results from a disturbance - either by genetic or environmental factors - during embryonic … of simplex Duane retraction syndrome. … Most likely, both genetic and environmental factors play a role in the … is a rare, congenital eye movement disorder. … Genetic Disorders …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… usually diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene. Genetic testing can identify mutations in 99 percent of … of disproportionate short stature. … Achondroplasia, Bone Disorders, FGFR3 Gene, Gene Mutation … Achondroplasia is a …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… have hemophilia B have low factor IX clotting activity. Genetic testing is also available for the factor VIII gene and the factor IX gene. Genetic testing of the FVIII gene finds a disease-causing … the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major …
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 … 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 …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Medline Plus: Phenylketonuria Children's PKU Network Genetic Testing Registry: Phenylketonuria GARD: … in the blood of a chemical known as phenylalanine. … Genetic Disorders …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … When symptoms are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and … copies of the SMN2 gene can modify the course of SMA. Genetic testing on a blood or tissue sample is done to …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Genome sequencing reveals genetic basis for disabling pansclerotic morphea, a severe … to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. “Researchers … to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it …