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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
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
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… genome browser to view the Mnemiopsis genome assembly, gene predictions and other biologically relevant sequence … the efficacy and safety of retroviruses used as vectors in gene therapy studies. More recently, her group has expanded … an efficient program for annotating Digital Gene Expression (DGE) tags. BMC Bioinformatics , 15:329. 2014. [ …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… Prabarna Ganguly, Ph.D. … Mutations in the RIPK1 gene responsible for CRIA syndrome Over the last 20 years, … complete set of DNA. Kastner and his team sequenced gene regions across the genome and discovered only one gene – RIPK1 – to be consistently different in all patients. …
News Release
NIH scientists proposed a new approach for finding ways to impede or halt cancer's spread: transgenic zebrafish as a live animal model of metastasis.
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… so, we consider the effect of adverse social factors on gene expression in population groups that are disproportionately …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… of Experimental Hematology. The American Society of Gene and Cell Therapy has elected Dr. Bodine to serve as … Journal of Hematology , American Journal of Hematology , Gene Therapy and Molecular Therapy . Having benefited from … is associated with cell cycle perturbation and reduced expression of E2F2. Mol Cell Bio, 28 (24):7394-401. 2008. [ …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… of hematopoiesis, Dr. Sood has generated and characterized gene knockout mutants for several important hematopoietic … with human diseases. Therefore, when a candidate gene for a disease or biological process is identified … and Sood R . Splicing factor DHX15 affects tp53 and mdm2 expression via alternate splicing and promoter usage . Hum …
Staff
Dr. Lanata is a staff clinician in NHGRI's Genomics of Autoimmune Rheumatic Disease Section.
… research projects. She currently serves on the SLE Gene Curation Expert Panel for ClinGen, Clinical Genome … A, et al. Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease . Lupus Sci Med … patients identifies ethnicity- and disease-specific expression signatures . Commun Biol . 2021 Apr 21; 4(1):488. …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… and the genetic risk factors are complex. They include gene-gene interactions, gene-environment interactions and gene expression. Moreover, Dr. Persky noted that people may not …
Staff
Dr. Edward Giniger is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.
… constant and variable exons of a Drosophila axon guidance gene, lola. Genes , Dev 17: 2496-2501. 2003. [ PubMed ] … factor, Lola, promotes axon growth in part by suppressing expression of the actin nucleation factor, Spire. Neural …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… shown that a polymorphism in the endothelial nitric oxide gene is associated with diabetic retinopathy in Africans. In … with more than 2 million markers, and (3) whole genome expression analysis on skeletal muscle obtained from biopsy … in this area include the mapping of variation in the FTO gene for obesity, characterizing the role of interleukin …