Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for … purposes only and is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a …
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.
… 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. … Cri du … known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous … and in all races. Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous … found in about 15 percent of individuals who have ADPKD. A genetic test can detect mutations in the PKD1 and PKD2 genes, …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … or no apparent trauma. … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break … by a medical team including the child's own doctor, and genetic, orthopedic and rehabilitation medicine. Supportive …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis is a genetic neurological disorder that can affect the brain, … cord, nerves and skin. … Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, … A rare form of NF is schwannomatosis. However, the genetic cause of this form of NF has not been found. … …
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 … will be adapted to treat other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic … Center and at PathoGenesis Corporation have completed a genetic map for the Pseudomonas aeruginosa bacterium. This …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … 11 that is affected). Chromosomes are packages of genetic characteristics. There are 22 pairs of chromosomes …