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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… Society of Human Genetics (ASHG) and the International Genetic Epidemiology Society (IGES). He has served on the … His research interests focus on the identification of genetic effects that may be responsible for phenotypic … the statistical properties of newly developed methods of genetic analysis for quantitative traits. … The overarching …
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 …
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 …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… Sarah A. Bates, M.S. … Genetic epidemiologist and genomics researcher to lead … and to develop better methods to detect, prevent and treat genetic disorders. NHGRI is part of the National Institutes of Health. Dr. Rotimi is a leading genetic epidemiologist and genomics researcher with expertise …
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 …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric diseases and …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… … For almost 30 years, Dr. Aksentijevich has used genetic and genomic approaches to understand human … system. Dr. Aksentijevich subsequently discovered the genetic basis of two disorders in which interleukin 1b plays … ancestral origins, genotype-phenotype studies, and further genetic heterogeneity of periodic fevers. Am J Hum Gene,t …
News Release
NIH Center for Research on Genomics and Global Health is participating in the H3Africa Consortium's effort to develop an African-specific genotyping array.
… have made a good start in identifying and understanding genetic mutations that have evolved over thousands of years … sickness, but today Africans and people of African ancestry with these genetic mutations have a higher risk of kidney disease. … …
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. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… the disease has been supported, it is unclear whether this genetic risk mirrors that observed in adults (multiple genes … approach to fine map the functional consequence(s) of genetic variation our risk locus. We are also applying trans- and local-ancestry admixture mapping models to other cohorts of …