Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- 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
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper. Over time, the extra copper can lead … Disease Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases …
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 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 cysts in both kidneys. The progressive expansion … National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation …
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 investigation by researchers at …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and … will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … degeneration of the muscles and loss of sensation. … Genetic Disorders …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … From the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health … called glucocerebroside cannot be adequately degraded. … Genetic Disorders …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… in movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the chance of … likely to develop the condition. Genetics: The Basics Our genetic material is stored in the center of every cell in our … to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most cases …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… tumors that occur chiefly in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis … it is 20 times more common in women, 16 percent of the reported cases are males and it can also occur in people … corticosteroids, a disturbance of endocrine function, or a genetic cause since it seems to run in some families. Some …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of … skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women … usually diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… severe emotional disturbance and cognitive decline. In the United States alone, about 30,000 people have HD. In … the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose function is still … lost by nerve degeneration in individuals with HD. Genetic studies: Scientists are continuing to study …