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News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… diagnose and treat individuals with rare and undiagnosed diseases. … and dedicated care of numerous patients with rare diseases, make him overwhelmingly worthy of this career … of the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) in 2008. The aim of the UDP is both …
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 …
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 …
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.
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
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.
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… proposed the now widely accepted overarching concept of autoinflammatory disease to denote disorders of the … Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) that mapped the gene for FMF to chromosome … syndrome), and proposed the now widely accepted concept of autoinflammatory disease to denote a broad group of innate …