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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium2
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … and undiagnosed diseases.  For many years, Dr. Tifft's clinical and research interests have been lysosomal disorders … Diseases Program, Dr. Tifft coordinates the selection and clinical evaluation of children whose diagnoses have long …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. … and a section chief since 2000. Her research includes both clinical and basic research aspects of Gaucher disease and …
Staff
Dr. Teri Manolio is the director of the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… associations and genome-scale analytic technologies to clinical problems of disease diagnosis and treatment" said Dr. Manolio. "This knowledge will enable us to meld clinical and genomic research for rapid improvements in clinical care." Dr. Manolio envisions a day when patients have ready …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. … … guide individualized patient treatment or enrollment in clinical trials that test a therapy aimed at a particular … Exploratory Research Program, exome, clinical cancer care … Researchers have created a promising new method to …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… appointed Oleg Shchelochkov, M.D., as the new director of Clinical and Laboratory Residencies and Fellowships. Dr. Shchelochkov, a clinical geneticist and medical biochemical geneticist, takes … passion for so many areas of genomics — including clinical care and patient management, bioinformatics and emerging …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… improve how genomic information is integrated into patient care. … The National Institutes of Health (NIH) is awarding … the United States, learning health systems are a type of clinical practice that bridges research and patient care. … common, more and more genomic data are available in clinical settings, and learning health systems present an …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator … ASHG … ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with … for 2019. ​ … Leslie Biesecker, ASHG, ASHG president, clinical and molecular geneticist, Medical Genomics and …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, … recognizes research achievements by trainees in basic, clinical, and social behavioral science research. … NHGRI Intramural Research Program, Basic Research, Clinical Research, Social Behavioral Science Research, …
Health
Information about genomics competencies, patient care, and related partnership and outreach activities at NHGRI.
… information about genomics competencies, patient care, and our partnership and outreach activities. … Related … … Information about genomics competencies, patient care, and partnership and outreach activities at the National … … Information about genomics competencies, patient care, and related partnership and outreach activities at …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… of genomic medicine in community-based clinics and primary care practices, and include rural, minority and other … of clinicians and information scientists will conduct a clinical trial of approximately 6,000 patients to measure cost effectiveness and clinical outcomes of using pharmacogenomics, examining …