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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
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic … this may be the only sign of the problem. A specific genetic test (polymerase chain reaction [PCR]) can now be …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that … in the future. … ADHD often appears to run in families, and research studies have suggested that there may be a … goals of this study is to facilitate the diagnosis of ADHD and the development of improved treatments, possibly …
Event
On February 23, 2023, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Next Generation of Black Leaders in Genetic Science."
… Speaking: Exploring Diversity in the Fields of Genomics and Biomedical Sciences October 20, 2022 Historically Speaking: Intersecting Race, DNA, And Demography September 10, 2020 … Past Events … Panel … … Historically Speaking: Next Generation of Black Leaders in Genetic Science ," a panel of African American biomedical …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. The DMD gene … boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) … change, or de novo change and about 10 percent of new mutations are due to gonadal mosaicism. Gonadal mosaicism …
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 … healthcare provider with specialized knowledge of genetics and an individual or family. … Genetic Counseling, … a genetic condition could affect an individual or family and/or interpret genetic tests designed to help estimate the …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… their low blood sugar. Now, an oncogene shared by dogs and humans points to another way that canines may come to our … powerful animal model for research into human cancer. … A genetic mutation that triggers bladder cancer in dogs is … of Health, Purdue University in West Lafayette, Indiana, and Tufts University in North Grafton, Massachusetts, …
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 …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… Genetic Epidemiology … Genetic epidemiology is a relatively … factors influence human traits, such as human health and disease. In many cases, the interaction of genes with the … seek to understand the causes, distribution and control of inherited disease in groups and the …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic … are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics …