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Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… University. She then trained in pediatrics at Children's Memorial Hospital/Northwestern University, and completed … both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first identified …
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 … two defective forms of the gene implicated in Lou Gehrig's disease are known to interact with a GARS family member. …
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 … and Gaucher carriers have an increased risk of developing Parkinson disease and related disorders. … The diagnosis of … However it is often not possible to predict the patient's clinical course based upon DNA testing. … Enzyme …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… conditions that inflict severe health burdens on the world's poorest people and are often overlooked by drug developers … conditions that inflict severe health burdens on the world's poorest people. Many of these conditions are infectious … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by …
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.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized … people use family history to improve their health, the U.S. Surgeon General started a national public health campaign called the U.S. Surgeon General's Family History Initiative . This goal of …
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, … about one in 30,000 people. Wilson disease causes a person's body to store too much of the mineral copper. Many foods …
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 … autoimmune disorder (a condition that occurs when the body's immune system attacks normal, healthy body tissue). … dominant trait (this means that one out of a person's two copies of the gene, inherited from one parent, is …
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, … diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … emotional disturbance and cognitive decline. … Huntington's disease (HD) is an inherited neurological illness causing …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of … stroke), neuropsychiatric diseases (autism, Alzheimer's disease, epilepsy), and immune-mediated diseases (irritable …