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Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… Ph.D. in genetics from the Johns Hopkins University School of Medicine, where he studied the genetics of mitochondrial fusion and fission in yeast. He trained with Nancy Hopkins, Ph.D., at the Massachusetts Institute of Technology, where he was part of a large effort to develop …
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 …
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 …