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Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … "disease models," or laboratory animals that mimic human diseases and can be studied to test new therapies. In the … to use genome editing as a treatment for disease. Many diseases from cancer to asthma have genetic bases. Through …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… to apply these standards in the context of particular diseases. ClinGen projects center on developing processes and …
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 …
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 …
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 …
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.