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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. … The Department of Health and Human Services (HHS) … 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 …
Profile
NHGRI science writer Prabarna Ganguly spoke with Segre about her research career, what makes microbes so complex and her roles in science policy and anti-harassment campaigns.
… on the circumstances, promoting human health and causing diseases.   A view of the skin microbiome and the lower skin … Segre about her research career, what makes microbes so complex and her roles in science policy and anti-harassment … Segre about her research career, what makes microbes so complex and her roles in science policy and anti-harassment …
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 …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… the  history of eugenics and scientific racism  and their complex legacies in the modern health sciences. 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 …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
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.
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… arthritis. … Improved Understanding of Autoimmune Diseases The senior author of the paper, John J. O'Shea, … Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The lead author, Golnaz Vahedi, Ph.D., is a … genes can be a challenge because in most cases a complex mix of genetic and environmental factors is involved. …