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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

Researchers make advance in possible treatments for Gaucher, Parkinson's diseases

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

Mouse model for rare genetic disease advances understanding of Parkinson's

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

Dr. Ellen Sidransky recognized for unique insight in Parkinson's research

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

Rare disease research may provide insights into common diseases

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

Gaucher Disease Clinical Studies at NIH

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

Ellen Sidransky, M.D.

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

Rare Diseases FAQ

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

Complex Disease

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

Rare Genetic Diseases

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 …