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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 tremor and/or stiffness in movement … Parkinson's disease (PD) is a neurological condition that …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior investigator with …
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.
… are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research. … Ellen Sidransky never thought she would study …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … research updates at the February 27 event. In NHGRI's Medical Genetics Branch , for example, Ellen Sidransky, … between the rare Gaucher disease and the more common Parkinson's disease. While patients with Gaucher disease are …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … and a shortened life-span. Gaucher Disease and Parkinson Disease In the late 90’s and early 2000’s, scientists at the NIH highlighted an …
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 …
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.
… A rare disease is generally considered to be a disease that affects … systems (See: Learning About Cystic Fibrosis ); Huntington's disease, which affects the brain and nervous system (See: Learning About Huntington's Disease ); and muscular dystrophies, which affect the …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… trying to find the root cause for their family member's rare disorder. It is difficult to overstate the relief that … a mutation in each copy of a gene called  NGLY1 . Bertrand's mutations meant that he had no functioning copy of this … identification of at least 15 other children with the same disease, and the establishment of the  NGLY1 Foundation  to …