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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… use this as a model to investigate how to go from single gene diseases to complex diseases from diagnostic and … defining what types of evidence might be needed to prove gene-disease associations and the validity of tests and …
News Release
As director, Erin Ramos will lead the institute’s extramural programs in basic genomics research.
… (PRIMED) program, the developmental Genotype-Tissue Expression (dGTEx) program and the Multi-Omics for Health and …
News Release
Supporting early career investigators at the cutting edge of genomics.
… that do not code for genes. Many of these regions regulate expression of genes and are called regulatory elements. Dr. …
Staff
Dr. Alexander Arguello is a program director in the NHGRI Division of Genome Sciences.
… Program  (HGRP) and Developmental Genotype-Tissue Expression  (dGTEx) initiatives as well as the trans-NIH …
The Genomics Landscape
In the April 2019 edition of The Genomics Landscape, NHGRI Director Eric Green previews the redesigned genome.gov website and its new features.
… Lung, and Blood Institute, who is working to develop a gene therapy-based treatment for sickle cell disease. This … Alcohol Use and Adult Anxiety  Largest-Ever Alzheimer's Gene Study Brings New Answers  Mood-Altering Messenger Goes … Tic-Tac-Toe Game Built from DNA Researchers Uncover Gene Regions that Affect Cholesterol Levels in Smokers …
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
… these regions, and identify the mechanisms used to change gene expression. The other awardee funded by NHGRI’s Extramural … in Sub-Saharan African Populations How Do You Toast a Gene Therapy Trial? With Tea A GPS-Like System for …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… hyperthermia Treating inherited retinal disease with gene editing Validation of a clinical breast cancer risk … may have greater diagnostic utility than a targeted gene panel in sick infants New, specific gene editing may treat sickle cell disease  Read the full …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… and her research group identified mutations in the GBA1 gene as a risk factor for Parkinson’s disease by uncovering … Gaucher disease, which is caused by mutations in the same gene. The discovery of GBA1 mutations as a risk factor for … group that aimed to understand genome function and gene pathways in development and disease. His group was the …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… genomics to identify the etiology of unexplained disease. Gene-Disease Validation Definitive evidence supporting or refuting a claim that variation in a particular gene causes a particular disease in humans, including … Interpretation of genetic test results identified in a gene unrelated to the primary purpose for the testing. Health …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… Mutations in human homologue of chicken talpid-3 gene ( KIAA0586 ) cause a hybrid ciliopathy with overlapping … 11:00 - 12:00 p.m. 489T. Randy J. Chandler: Promoterless gene-targeting using adenoassociated viral (AAV)-mediated … and Dysmorphology) *2803F. Marjorie Lindhurst: Ubiquitous expression of the Proteus mutation Akt1 c. 49G>A, p. …