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Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of … of the spine). People with CMT disease usually begin to experience symptoms in adolescence or early adulthood. … a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… sanitation, substandard housing and little or no access to health care. … Diseases are said to be neglected if they are often overlooked by drug … exact their toll over a longer period of time, leading to crippling deformities, severe disabilities and/or … by tsetse flies. If untreated, the parasite migrates to the central nervous system, causing seizures, mental …
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.​ ​
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … has high blood pressure, his or her child is more likely to have high blood pressure as an adult. Learning about the …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … Parkinson's disease (PD) is a neurological condition that typically … stiffness in movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the … that there may be a gene making this family more likely to develop the condition. Genetics: The Basics Our genetic …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… will use support from the National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical letters in a cell's DNA-may contribute to increased risk or protect against the disease. The NIH …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … enough glucocerbrosidase. This causes the specific lipid to build up in the liver, spleen, bone marrow and nervous … and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear …
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, Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. … and weakened bones. Researchers have found it difficult to understand the role of GBA1 mutations in the seemingly …
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 to organ damage that may cause death. … in 30,000 people. Wilson disease causes a person's body to store too much of the mineral copper. Many foods contain …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support studies to better understand the causes and development of these … in UDN patients with information about the patients' genomic make-up and results from various medical tests. Taken …
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.
… Dercum disease is a rare condition that is characterized by … women of middle age. However, although it is 20 times more common in women, 16 percent of the reported cases are males … primarily on the trunk region and on the extremities close to the trunk. Unlike ordinary lipomas, there is also pain …