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Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… From the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. … could be widely available to treat people with these diseases. However, there's a long distance between … Intramural Research . "It demonstrates how insights from a rare disorder such as Gaucher disease can have direct …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women … colectomy for uncontrolled bleeding, this is increasingly rare in Crohn's, especially with new immune therapies. … … Disease Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health …
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 … Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for informational purposes only and … … Genetic Disorders … A list of genetic, orphan and rare diseases under investigation by researchers at or …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria … Progeria is a rare disease characterized by accelerated aging. … Birth … Nuclear Membrane, Nucleus, Protein … Progeria is a rare disease characterized by accelerated aging. The classic … from heart disease during late childhood. … Progeria is a rare disease characterized by accelerated aging. … …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… There are an estimated 7,300 such conditions, which are rare and usually inherited, and typically caused by a … the genomic causes for only about half. Individually, a rare disease may affect only a handful of families. Collectively, rare diseases impact 20 to 30 million people in the U.S. alone. …
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.
… colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as … Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Allergy and Infectious … leading to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the progressive loss …