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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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.
… children 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 … a clinical trial. “Designing clinical trials for curative genetic therapies requires addressing the patient communities …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… the clinical relevance or validity of genes in various genetic disorders for their use in precision medicine and … know their family history and have undergone genetic testing. The term “QT” refers to the segment of an … was described in 1957, researchers have engaged in a genetic race to identify the genes associated with long QT …
News Release
Four NHGRI researchers share the steps toward a career in genomics with 60 Brooklyn-area high school students.
… He talked about the Physicians' Understanding of Human Genetic Variation Study, which he is leading. The study investigates the factors that influence which genetic tests healthcare providers recommend to their …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… M.D., Ph.D., senior investigator and chief of NHGRI's Genetic Disease Research Branch. "If we knock it out in mice, … factor, Pamela Schwartzberg, vaccine development, genetic disease … TCF1 (for T cell factor-1) is essential for …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… disease. Many of the studies point to new associations of genetic variants with a number of conditions and disorders, … "Many are focused on understanding some aspect of the genetic architecture of different traits, conditions and … in the eMERGE Network. Another examines ways that the genetic makeup of individuals from different populations and …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… we now have a comprehensive understanding of many of the genetic pathways that lead to cancers of the lung," said NCI … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be … … The Cancer Genome Atlas, TCGA, adenocarcinoma and genetic mutations, Harold Varmus M.D., DNA copy number …
News Release
Fearful patients who received information about the role of genomics in obesity were less likely to take steps to improve health habits
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… well understood, but scientists believe that they have a genetic component because they often run in families. … Director Stephen I. Katz, M.D., Ph.D. "Knowledge of the genetic risk factors helps us assess a person's … can be a challenge because in most cases a complex mix of genetic and environmental factors is involved. Genetic …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… in Nature and in several other publications - examine the genetic and biochemical programs involved in regulating mouse … Ph.D., John Stamatoyannopoulos, M.D., mouse models for genetic research … Researchers have found powerful clues to …