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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. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… approaches. Dr. Liu discovered that a CBFB-MYH11 fusion gene is the product of chromosome 16 inversion, a common … CBFB-MYH11 for leukemia development, and how this fusion gene works. His group has also made important discoveries … respectively) that form a dimer for DNA binding and gene expression regulation, are frequent targets of such …
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
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… grants and contracts related to the Genotype-Tissue Expression (GTEx) Project as well as the newly established … … Simona Volpi, common diseases, Genotype-Tissue Expression Project (GTEx), NIH Common Fund … Dr. Simona Volpi …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… at the NIH Undiagnosed Disease Program (UDP) and the GM1 gene therapy program led by Dr. Cynthia Tifft. … Her main … investigator and a pediatric neurologist with the GM1 gene therapy trial, she is applying this background by … using DT as part of the assessment of patients from the gene therapy GM1 protocol are strong and encouraging of the …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… genomics, epigenetics, and transcriptomics to uncover gene regulatory mechanisms that drive disease progression and … RNA splicing, and chromatin architecture in shaping gene regulation in genetic diseases and cancer. This work … by correlating cross-tissue epigenetic profiles and gene expression . Genome Res . 2019 Apr;29(4):657-667. doi: …
Staff
Dr. Colin Fletcher is the program director in the Knockout Mouse Project (KOMP) in NHGRI's Extramural Research Program.
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… research focused on adeno-associated virus (AAV) gene therapy for the treatment of hemophilia A, a genetically … Dr. Chandler’s research has focused on the efficacy of gene therapy as a treatment for rare genetic disorders, such … Kishimoto TK. ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… variant in the duffy antigen receptor for chemokines gene. PLoS Genetics , 5(1): e1000360. 2009. [ PubMed ] CY … Zmuda, TB. Harris. Plasminogen activator inhibitor type 1 gene polymorphisms and haplotypes are associated with plasma … "The 894T allele of endothelial nitric oxide synthase gene is related to left ventricular mass in African Americans …
Staff
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… projects. To this end, she has concentrated on developing gene-editing protocols that will provide more efficient means … an updated guide for protocols using CRISPR/Cas9 and other gene-editing tools. This guide is provided on the in-house … the publication, Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… research determining the effect of genetic variation on gene function and identifying primary targets for potential … kinase signaling and the search for the IL2Rg gene. In 1993, he moved to the NHGRI Intramural Research … Network for Systematic Analysis of Pancreatic Islet RNA Expression (InsPIRE) consortium. In addition, he is a …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… Next we use these heritable brain phenotypes for both gene discovery (through GWAS) and gene understanding. Translational studies:  We are attempting … National Human Genome Research Institute. … Philip Shaw, gene-environment interactions, attention deficit …