Search Results
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… KM, Chong SN, Chandrasekharappa SC, Mullikin J, Liu PP. Genomic Landscape of Patients with Germline RUNX1 Variants … oncology because of the rare opportunity to monitor the genomic evolution of cancer from a pre-cancer population in … More widespread access to genomic medicine vital for studying a rare, undiagnosed blood …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… to generate or study.  Category Information Content Genomic Medicine Resource Genomic medicine educational materials or guidelines. Pilot … a need for broader research for the systematic uptake of genomic research findings and other evidence-based practices … for notable accomplishments : Involve use of patients’ genomic variant information in clinical decision making. …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… of DNA among individuals are called genetic variation. Genomic variation explains some of the differences among … variants to functional variation and phenotype. The Genomic Variation Program supports large-scale studies of human genetic variation as part of projects such …
News Release
NHGRI appoints Elizabeth Tuck as the director of its NHGRI’s Education and Community Involvement Branch to oversee programs aiming to increase genomics literacy and education.
… Tuck to oversee programs aiming to increase genomics literacy and education. … such as the ethical, legal and social implications of genomic advances. Tuck’s appointment as ECIB director marks … Branch to oversee programs aiming to increase genomics literacy and education. …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… with the disease. These participants completed a genetic literacy survey, watched an educational video about genome … editing, study participants demonstrated higher genetic literacy levels than estimated. The NHGRI study suggests … informed consent, genome editing, clinical trials, genetic literacy, Vence Bonham …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… population descriptors in future genetics and genomics studies. While the fields of genetics and genomics have … using population descriptors as a proxy to describe human genomic variation. These descriptors have reflected … individuals’ nationality, geography, and ethnicity, but genomic variation is complex and fails to track accurately to …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… in genomics research and the increasing availability of genomic information. The awards will fund researchers at … The projects will examine the use of genomic information in the prevention and treatment of infectious diseases; genomic information privacy; communication about prenatal and …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… genome-wide sequencing technology and other complementary genomic approaches to discover the genetic basis that … Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian Disorders …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. … scleroderma and podoconiosis). MCIDGB researchers analyze genomic data to document and interpret the non-random … clinical observation, genetic analysis and functional studies. MCIDGB investigators seek to understand the …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Precision medicine will largely be built on vast troves of genomic information, but diverse populations are still underrepresented in public genomic databases, according to a new study by researchers … Diverse Groups Underrepresented in Genomic Databases They found significantly fewer studies of …