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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. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… as a member of the collaborative group in search of the gene responsible for early onset breast cancer ( BRCA1 ), CGU … CGU to participate in physical mapping efforts of disease gene regions and positional cloning efforts of genes involved … -encoded protein, menin. The lab further investigated the expression of menin in mouse, zebrafish and drosophila …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… Krystyna Keller Postbaccalaureate Fellow, Koehly Lab Gene Expression & Bioinformatics for Prenatal Therapy in Down … Fellow, Health Disparities Unit Cardiac Strain in the GENE-FORECAST Albert Barrera Postbaccalaureate Fellow, …
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
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 …
News Release
NHGRI-funded researchers to be honored with Presidential Early Career Awards for Scientists and Engineers
… regions and identifies the mechanisms they use to alter gene expression. Dr. David Yu Zhang , an extramural researcher at …
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 …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… parts I liked best were the statistical parts of it — the gene discovery part. … Soo: What were some of the projects … that led to Mary-Claire King discovering the BRCA1 gene. I also worked with Henry Lynch to find genes associated … frequency of this rare cancer. We identified the first gene to cause carcinoid tumors in one family we studied. What …