Search Results
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 medicine. … have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. … pressure as an adult. Learning about the health history of your family and sharing this information with your health …
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 … Parkinson's disease (PD) is a neurological condition that typically … in movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the chance of developing PD increases as we …
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, the extra copper can lead … Wilson disease causes a person's body to store too much of the mineral copper. Many foods contain copper, and it is …
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 … using PET scanning and other imaging technologies. Animal models: Scientists hope to learn more about the symptoms and … The discovery of the HD gene led to a genetic test to make or confirm the …
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 metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately … Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called …
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 … tumors that occur chiefly in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … tumors) that occur chiefly in post-menopausal, obese women of middle age. However, although it is 20 times more common …
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, usually diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic … The symptoms of Crohn's disease include: Abdominal pain, often in the …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… With assistance from a high tech robot, National Institutes of Health researchers have identified and tested a molecule … shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … (NHGRI), and her collaborators at the National Institute of Neurological Disorders and Stroke (NINDS) and the National …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… are thread-like structures located inside the nucleus of animal and plant cells. … are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein … The unique structure of chromosomes keeps DNA tightly wrapped around spool-like …
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 diseases with the goal of: Undertaking variant discovery for enough different examples of disease architectures and study designs to better understand …