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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, … Crohn's disease, an idiopathic (of unknown cause), chronic … of bowel between inflamed areas). Complications of Crohn's disease include: blockage of the intestine; sores and ulcers …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … Huntington's disease (HD) is an inherited neurological illness causing … the abnormal gene that will cause them to develop the disease. There is no cure for this fatal disease. A single abnormal gene produces HD. In 1993, …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior investigator with … "Until now, drugs used to treat Gaucher disease have not been able to enter the brain and reach those …
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NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… common health conditions, information such as polygenic risk scores are not currently as accurate at predicting risk. Various direct-to-consumer companies are making these risk scores available to anyone. But researchers know very … issues and biases associated with using polygenic risk scores in the clinic, such as using patient race as a …
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.
… the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations … A single mutation in the Gaucher disease gene, GBA1, is frequently found in patients who have Parkinson's disease, a neurodegenerative movement disorder. Individuals …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction is poorly understood. …
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 … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … fetus early in pregnancy. However, a baby with Tay-Sachs disease appears normal until about six months of age when its … a carrier. Eastern European (Ashkenazi) Jews at Greater Risk for Tay-Sachs Disease: While anyone can be a carrier of …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … mysterious conditions. On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … missed days of work, hospital stays, lab tests, and the risk of injury from hunting for a disease. Also, what are …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the … United States. Approximately 100,000 Americans have the disease. In the United States, sickle cell disease is most prevalent among African Americans. About one …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … of genes that have large effects on an individual's risk for developing rare diseases. These same approaches …