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Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye). … Retinitis pigmentosa (RP) is the name given to … retina (the light-sensitive part of the eye). … Genetic Disorders …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. … Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body … that affects the muscles and other body systems. … Genetic Disorders …
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 … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic … causes tremor and/or stiffness in movement … Genetic Disorders …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in … caused by a mutation in the FMR1 gene. … Genetic Disorders …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… The Natural History Study of Patients with GNE Myopathy collects genetic and medical … from people with GNE Myopathy and other GNE-related disorders . Patients are followed over time to understand the … Genetics Home Reference: Inclusion body myopathy 2  Neuromuscular Disease Foundation (NDF)  Treat-NMD …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… diagnose, manage, and counsel patients with inborn errors of metabolism. … Like the Medical Genetics Residency Program, … in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … the care and clinical research of patients with metabolic disorders. The residency program includes many didactic …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… is an inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol beginning at … Association - Cholesterol National Organization for Rare Disorders Online Mendelian Inheritance in Man eMedicine … at birth and heart attacks at an early age. … Genetic Disorders …
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.
… condition that causes a person's body to store too much of the mineral copper. Over time, the extra copper can lead … cirrhosis, acute liver failure or other serious liver disorders, a liver transplant may be the only option for … Gene Tests Genetic Alliance National Organization for Rare Disorders Finding Reliable Health Information Online … What …
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 … tumors) that occur chiefly in post-menopausal, obese women of middle age. However, although it is 20 times more common … in post-menopausal, obese women of middle age. … Genetic Disorders …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Combined Immunodeficiency is a severe, genetic condition of the immune system. … Severe Combined Immunodeficiency … or SCID, is a term applied to a group of inherited disorders characterized by defects in both T and B cell … severe, genetic condition of the immune system. … Genetic Disorders …