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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
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News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior … could be widely available to treat people with these diseases. However, there's a long distance between … are at higher risk of developing Parkinson's disease, a common disorder characterized by tremors, muscular rigidity …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, … mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 … Issue 4, 198-208, December 2017. … A Puzzling Link Between Diseases … Related Content … Mouse model for rare genetic …
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 … Treating Children and Adolescents National Digestive Diseases Information Clearinghouse Inflammatory Bowel Disease … Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the United States. …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … most challenging medical mysteries. Supported by the NIH Common Fund , UDN uses genome sequencing in the clinic, along … abnormal lab value, biopsy or radiographic study. If the common things have been ruled out we move to a more …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… About NHGRI and NIH … As genome-editing trials become more common, informed consent is changing … NHGRI researchers …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated … Institute of Arthritis and Musculoskeletal and Skin Diseases Last Updated: February 7, 2017 … Novel Changes … …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.