Search Results
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… G.*, Frederick, J.*, Sharp, W. et al. (2019). Mapping associations between polygenic risks for childhood …
Staff
Dr. Erin M. Ramos is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… focused on the genetic epidemiology of Alzheimer's disease and the ethical, legal, and social implications … research including genome-wide association studies, gene-environment interactions, genomic risk assessment and … Berg JS. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… genes to understand their role in normal development and disease processes by applying cutting-edge molecular biology … of hematopoiesis, Dr. Sood has generated and characterized gene knockout mutants for several important hematopoietic … with human diseases. Therefore, when a candidate gene for a disease or biological process is identified …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… definitively associated with the most common form of the disease. The work was funded by the National Human Genome … reporting to physicians. Published papers reporting gene-disease associations vary widely in their study design and strength …
Staff
Dr. Lucia Hindorff is the Lead Extramural Training Program Director in the Training, Diversity, and Health Equity Office at the National Human Genome Research Institute.
… expand understanding of ancestral differences in genomic disease associations in large, diverse, well-characterized cohorts, … in Diverse and Medically Underserved Populations. Am J Hum Gene t 2018 Sept 6; 103(3): 319-27. [ Full Text ] Hindorff …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… which differences in DNA make people more susceptible to disease. The awards, which total approximately $11.1 million … regions of the genome that are responsible for regulating gene activity. A better understanding of these genetic … Instead, they contain DNA sequences that help control gene activity - turning genes on and off, for example - and …
Strategic Vision
Staff within the institute and colleagues in the genomics community organized and contributed to the >50 events associated with the strategic planning process (e.g., town halls, dedicated workshops, conference sessions, and webinars) and provided critical feedback.
… Morgan National Science Foundation Elaine Ostrander NHGRI Gene Robinson University of Illinois Susan Thomas University … for Basic Genomics, Genomic Technologies, and Genomics of Disease … Genomics2020 Town Hall Organizers … Genomics2020 …
Staff
Dr. Belen Hurle is an associate investigator in NHGRI's Division of Intramural Research, an educational outreach specialist in the Education and Community Involvement Branch and a training program coordinator in the Intramural Training Office.
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.
… families in order to achieve better understanding of the disease progression and underlying mechanisms, which will … People with germline RUNX1 mutations develop a genetic disease called familial platelet disorder with associated … advanced data-analytics programs to derive meaningful associations for the development of prevention, management …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… on the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and systemic lupus … … Biography … Genomics of Autoimmune Rheumatic Disease Section Staff … Lindsey A. Criswell, M.D., M.P.H., … in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. … Lindsey Criswell, genetic risk …