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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.
… disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. … disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… that typically causes tremor and/or stiffness in movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the chance of … likely to develop the condition. Genetics: The Basics Our genetic material is stored in the center of every cell in our …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health History … Genetic testing is the use of a laboratory test to examine an …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately … disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … glucocerebroside cannot be adequately degraded. Normally, the body makes an enzyme called glucocerebrosidase that …
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.
… tumors that occur chiefly in post-menopausal, obese women of middle age. … tumors) that occur chiefly in post-menopausal, obese women of middle age. However, although it is 20 times more common in women, 16 percent of the reported cases are males and it can also occur in people …
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.
… Researchers at the National Human Genome Research Institute (NHGRI) and … cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 … disorder. Individuals who inherit two mutant copies of GBA1 have Gaucher disease, a rare lipid storage disorder …
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, usually diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic inflammatory disorder of the … skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… to be a disease that affects fewer than 200,000 people in the United States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… severe emotional disturbance and cognitive decline. In the United States alone, about 30,000 people have HD. In … the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose function is still … lost by nerve degeneration in individuals with HD. Genetic studies: Scientists are continuing to study …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice directed against people who have or may have a genetic disease. … Genetic Discrimination, GINA, Genetic Information Nondiscrimination Act, DNA, Healthcare … Genetic discrimination. Genetic discrimination refers to the …