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​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. …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… Genome-wide association studies involve scanning markers … information to develop better strategies to detect, treat and prevent the disease. Such studies are particularly useful … disease-causing problem resides. However, the associated variants themselves may not directly cause the disease. They …
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 … too much of the mineral copper. Many foods contain copper, and it is important for people to have a small amount of … Wilson disease, copper builds up in the liver, brain, eyes and other organs. Over time, the extra copper can lead to …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 … clusters in families. Researchers at the National Human Genome Research Institute (NHGRI), part of the National … to search for regions of the genome that contain genomic variants associated with the condition. Most previous studies …
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 … makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell … at the Medical Genetics Branch of the National Human Genome Research Institute by Dr. Ellen Sidransky. Dr. …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… While most differences in peoples' genomes - called variants - are harmless, some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to … addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National …
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 … - also known as Adiposis Dolorosa, Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition that is … in women, 16 percent of the reported cases are males and it can also occur in people who are not obese. The …
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 … too early yet to be certain. New research studies, called genome-wide association studies (GWAS) are an approach that …
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, … tract from the mouth to the anus. The swelling and inflammation can go deeply into the lining of the bowel. This can be very painful and can cause diarrhea, abdominal pain, nausea and decreased …
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.
… Jeannine Mjoseth … Researchers at the National Human Genome Research Institute (NHGRI) and their collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by …