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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 typically …

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 … affected in the most severe forms of Gaucher disease or in Parkinson's disease," said Dr. Sidransky. "It's really …

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 … gene, GBA1, is frequently found in patients who have Parkinson's disease, a neurodegenerative movement disorder. …

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 Parkinson's disease because it is not a disease a …

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 … between the rare Gaucher disease and the more common Parkinson's disease. While patients with Gaucher disease are at increased risk for Parkinson's disease, the vast majority never develop signs of …

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, … at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families. …

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.

… both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first identified … collaborative studies regarding the genetics of Parkinson's disease and dementia with Lewy bodies. Her …

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 fewer than 200,000 people in the United … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or …

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.

… identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation to support research about the disease and pursue possible treatments. In 2015, Matt was one … sequencing can transform the life of someone with a rare disease comes from Sonia Vallabh and Eric Minikel . After a …