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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
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 …
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 … are being destroyed, a common occurrence in rheumatic diseases, such as FMF. Elevated C-reactive protein, which is …
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 …
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.
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and … and families to better understand of how genes influence diseases and develop more effective diagnostics and …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.