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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. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… MMA to mitochondrial dysfunction and prove the efficacy of gene therapy as a treatment for both methylmalonic acidemia … Outstanding New Investigator from the American Society of Gene and Cell Therapy in 2010 and election into the American … in the fields of inborn errors of metabolism, genetics and gene therapy and serves on the medical advisory board of the …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… Using a combination of laser-capture microdissection and gene expression analysis, Dr. Brooks has identified 221 genes that … RP, Gross JM, Hejtmancik JF, Jiao X, Chan WY, Brooks BP. Expression profiling during ocular development identifies two …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… Health Sciences, where he studied mechanisms of gene regulation. Dr. Gilchrist received a B.S. in biology … pervasive effects of Pol II pausing on stimulus-responsive gene networks. Genes Dev , 26:933-44. 2012. [ PubMed ] … K. NELF-mediated stalling of Pol II can enhance gene expression by blocking promoter-proximal nucleosome assembly. …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… Developing Novel Therapies In prior work we have performed gene expression microarray analyses of the cell-free RNA that … also explored the effects of maternal obesity on fetal gene expression in fetuses with normal chromosomes. All of …
Staff
Dr. David Miller is the incoming chief of NHGRI's Scientific Review Branch.
… at Massachusetts General Hospital examining anomalies in gene expression associated with the pathophysiology of Parkinson’s …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… disorders including adipokine profiling, whole genome gene expression profiling, genome-wide association studies, … Doumatey AP, Xu H, Huang H, Trivedi NS, et al. Global Gene Expression Profiling in Omental Adipose Tissue of …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… from five continents” launched the initial first-in-human gene therapy trial for patients with Type I and Type II GM1 … iPS lines for neuronal differentiation and differential gene expression studies. Likewise, the group has used CRISPR/Cas …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… and most recently, genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare … group discovered that a point mutation in the lamin A gene ( LMNA ) activates a cryptic splice donor, resulting in … DNA methylation (by bisulfite sequencing), gene expression (by RNA-seq), and phenotypes on more than 300 …
Staff
Dr. Stephanie Morris is a program director in NHGRI's Division of Genome Sciences.
… Medicine. Her scientific background is in epigenetics and gene expression and extends to interests in technology development … research at NCI in the Laboratory of Receptor Biology and Gene Expression. … Sanford, JA and the Molecular Transducers …
Staff
Dr. Lisa Helbling Chadwick is a deputy director in Division of Genome Sciences at the National Human Genome Research Institute.
… include the development of novel approaches for Mendelian gene discovery and the prioritization or evaluation of … of high-throughput genomic technologies related to gene expression or RNA regulation. She also oversees NHGRI’s …