Search Results
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at … will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … investigating inherited and non-inherited neurological diseases. Additional Resources for Charcot-Marie-Tooth …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… Neglected diseases are conditions that inflict severe health burdens on … Neglected diseases are conditions that inflict severe health burdens on … poorest people. Many of these conditions are infectious diseases that are most prevalent in tropical climates, … Diseases are said to be neglected if they are often …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can … learn whether you have an increased chance of getting some common diseases. Your health care provider can then give you … test looks "estrogen receptors" in tumors. Children with a common type of childhood leukemia can be tested to find the …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… able to identify genetic variations that contribute to common diseases including Parkinson's disease. …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear … is a carrier. Type 2 and Type 3 Gaucher disease are not as common. … involves DNA analysis of the GBA gene for the four most common GBA mutations. Both enzyme and DNA testing can be done …
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.
… Disease Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases Information Center Gene Tests Genetic Alliance …
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.
… women of middle age. However, although it is 20 times more common in women, 16 percent of the reported cases are males …
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
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … to better understand the causes and development of these diseases, and to improve the ability of doctors to diagnose … and a coordinating center. The UDN is supported by the NIH Common Fund and builds on the success of the Undiagnosed …
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 … A Puzzling Link Between Diseases …