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News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… provide an estimate of an individual’s risk for specific diseases, based on their DNA changes related to those diseases. “Finding the set of genomic variants that are … well polygenic risk scores work to determine risk for such diseases.” Since the field’s inception, the genomics …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a post-doctoral fellow on the … to study the genetics of monogenic autoinflammatory diseases. Dr. Aksentijevich is certified in clinical … of several genes underlying known autoinflammatory diseases as well as the discovery of multiple previously …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… contribute local medical expertise to the NIH Undiagnosed Diseases Network (UDN). The network includes and is modeled … Ph.D., director of the National Institute of Neurological Diseases and Stroke, co-chair the UDN working group. The Undiagnosed Diseases Network spans the U.S. map, with locations for the …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… builds up in various tissues of the body, primarily the kidney. Potentially, it is the most serious complication of FMF, causing kidney failure. In some cases the amyloidosis can develop … of the protein albumin in the urine can be a symptom of kidney disease, along with microscopic hematuria (very small …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, Chromosomes, Mutation, Recessive, Dominant … is a pattern of inheritance characteristic of some genetic diseases. …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
… workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On , in Silver Spring, Maryland, on May … Revisiting the Missing Heritability of Complex Diseases, Ten Years On … workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On, in Silver Spring, Maryland. …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.