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News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the disease are now available from researchers at the National …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… computational biology, functional DNA elements, disease-linked genomic variants … Daniel Gilchrist, … computational biology, functional DNA elements, disease-linked genomic variants … Dr. Daniel Gilchrist is a …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … of the immune system in people with mitochondrial disease by using the Neoteryx ™ fingerstick at-home blood … invite household members of patients with mitochondrial disease to participate. … This study is open to …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum … biopharma, tech companies, and funders to accelerate discovery and translation for the next phase of human … focus on enabling research and activities to move from disease-associated loci, to disease biology, and then to …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… Americans and others of African ancestry carry a genomic variant that increases their risk of obesity, a finding that … person's risk of developing diabetes, hypertension, heart disease and some cancers. While obesity mostly results from … of NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch and director of the Center for …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type … , and a group in Israel, independently discovered the gene variant that causes the disease using a genomic technique … around the world with fevers and unexplained strokes. The discovery that all of these children are deficient in the …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge … from 1 in 3,000 to 1 in 6,000 children. Because the disease results in multiple defects throughout the body, …
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… with the four themes below. The social context of genomic discovery We approach research with a social genomics lens. … social processes, behavior, and environment to affect disease processes and outcomes. We use advanced and … creating disparities in risk, morbidity, and mortality of disease. In doing so, we consider the effect of adverse …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Expression, Gene Variation, Personalized Medicine, Gene Variant … A genome-wide association study (abbreviated GWAS) … that are statistically associated with a risk for a disease or a particular trait. The method involves surveying … that occur more frequently in those with a specific disease or trait compared to those without the disease or …
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in … Ave … Genomic Medicine XVI: Host Genomics and Infectious Disease … On December 12-13, 2024, NHGRI and NIAID … Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD. … On December 12-13, 2024, NHGRI and …