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- Developmental Genotype-Tissue Expression (dGTEx)1
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News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… sickle cell disease, which takes advantage of the latest genetic discoveries and technological advances to move the most promising genetic-based curative therapies safely into clinical trials. … in treatment for sickle cell disease, the first human genetic disease that was understood at the protein and DNA …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… genomic and cDNA libraries for genome research in genetic diseases. In 1993, Dr. Chandrasekharappa joined the … CGU developed resources and aided in the construction of genetic, physical and transcript maps of the locus on 17q. …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… to cancer research. His recent studies investigate the genetic and epigenetic basis of cancers in adult and …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… … Dr. Bell has devoted her career to understanding the genetic and genomic alterations that drive solid tumors. In … functional domains, these findings provide compelling genetic evidence that mutations in CHD4, FBXW7 , and SPOP are … Lim D-S, and Myung K. Predisposition to cancer caused by genetic and functional defects of mammalian Atad5 . PLoS …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… from Howard University. She has conducted research on genetic epidemiology of metabolic disorders especially … 6. doi: 10.1002/art.40541 Pattaro C…, Doumatey A, et al. Genetic associations at 53 loci highlight cell types and … Central PMCID: PMC4735748. Locke AE…, Doumatey A, et al. Genetic studies of body mass index yield new insights for …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… career, Dr. Bodine’s accomplishments have furthered the genetic understanding of blood disorders and opened avenues … produce enough red blood cells. Each new piece of the genetic puzzle helps diagnose more patients with this …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… as well as investigation into global patterns of human genetic variation. Applied research includes mapping genetic variants that influence obesity and anthropometric … S. 2015. Meta-analysis of correlated traits via summary statistics from GWASs with an application in hypertension. …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… therapies. People with germline RUNX1 mutations develop a genetic disease called familial platelet disorder with …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… team uses next-generation genomic tools to identify new genetic disorders, as well as to carefully establish … phenotypic spectra and the natural history of known genetic conditions. Their focus is on early-onset muscle … F. Muntoni, C.G. Bönnemann. Clinical, histological and genetic characterization of reducing body myopathy caused by …