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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 … will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … degeneration of the muscles and loss of sensation. … Genetic Disorders …
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 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 … From the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health … called glucocerebroside cannot be adequately degraded. … Genetic Disorders …
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.
… cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 … Between Diseases … Related Content … Mouse model for rare genetic disease advances understanding of Parkinson's … NHGRI …
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. … Dercum disease - also known as Adiposis … it is 20 times more common in women, 16 percent of the reported cases are males and it can also occur in people … corticosteroids, a disturbance of endocrine function, or a genetic cause since it seems to run in some families. Some …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… 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 … to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most cases …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… her Ph.D. in Human Genetics from the Medical College of Virginia (now called Virginia Commonwealth University) in … used molecular and biochemical techniques to understand genetic diseases of the teeth, the oral cavity and the kidney. … Dr. …
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.
… States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 … in a single gene. Such diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one …
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 … skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women … usually diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… genital ulcers, as well as vision 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 … in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated …