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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 … Wilson disease is a rare genetic condition that affects about one in … 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 with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical letters in a cell's … NIH awarded grants for using innovative new technologies and computational methods for the analysis. The scientists …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… 2014 highlights research on the use of DNA biorepositories and electronic medical records (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of genetic variants with a number of conditions and disorders, such as …
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 … 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 … lipid to build up in the liver, spleen, bone marrow and nervous system interfering with normal functioning. There …
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 … Dercum disease - 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 …
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… host genomic information in the diagnosis, prevention, and treatment of infectious diseases Examine obstacles and potential solutions to incorporating these and on-the-horizon approaches in clinical care (e.g., cost, … On December 12-13, 2024, the National Human Genome Research Institute (NHGRI) and the National Institute …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Genome-Wide Association Studies (GWAS) … A genome-wide association study (GWAS) is an approach used in … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized … A genome-wide association study (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a …
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 percent of West Africans, African Americans and others of African ancestry carry a genomic variant that … clusters in families. Researchers at the National Human Genome Research Institute (NHGRI), part of the National …
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 … to find genetic variations associated with a particular disease. … A genome-wide association study is an approach that involves … information to develop better strategies to detect, treat and prevent the disease. Such studies are particularly useful …
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, … Crohn's disease, an idiopathic (of unknown cause), chronic … 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 …