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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… The Medical Genetics Branch (MGB) seeks to identify and … the Branch. … Overview … Branch Staff … Featured Content … Medical Genetics Branch … The Medical Genetics Branch studies inherited disorders of …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… Steven Benowitz … Many "medical foods" are designed to help manage patients with rare … which may in turn result in the need to reformulate some medical foods. In two studies appearing online August 13, … issue of Genetics in Medicine , the researchers note that medical foods, including those given to patients with …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… of the National Human Genome Research Institute's (NHGRI) Medical Genomics and Metabolic Genetics Branch. But even with the … without its challenges. With more genomic advances in the medical arena comes a wider gap in training scientists and …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… - is moving from research laboratories into general medical practice. Now, two leading scientists have sketched … M.D., M.P.H., of Brigham and Women's Hospital and Harvard Medical School, Boston, note in the June 19, 2014, issue of … of Medicine (NEJM) . Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… strategic planning that will establish a 2020 vision for genomics research aimed at accelerating scientific and medical breakthroughs. … Accelerating Breakthroughs In … area of biomedical research and a growing component of medical care, with far-reaching implications for society. As …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Institutes of Health and Partners Healthcare/Harvard Medical School.* … Diverse Groups Underrepresented in Genomic … Bonham is also the Senior Advisor to the NHGRI Director on Genomics and Health Disparities. "Because genomic information … the study's first author and a genetics fellow at Harvard Medical School. The researchers noted that policies and …
News Release
Fearful patients who received information about the role of genomics in obesity were less likely to take steps to improve health habits
… patients who received information about the role of genomics in being overweight viewed the information as … … Obesity and genomic information, obesity and genetics, medical information and fearfulness, emotions and medical decisions, Social and Behavioral Research Branch, …
Leadership Initiatives
NHGRI's strategic planning process will establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… a strategic planning effort to establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs. During the development of the … strategic vision, we collected input from the scientific, medical and diverse public communities through >50 events, …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical Genetics Branch at NHGRI. She oversees the research … Boston, and her postdoctoral fellowship training in both Medical Genetics and Neonatal-Perinatal Medicine at Harvard. …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… Study members also give us information on their family and medical histories. Finally, blood samples are taken for … answer any questions you have about the study.  Family & Medical History: Our genetic counselor and nurse practitioner … Institutes of Health researchers has turned traditional genomics research on its head. Trans-NIH Study Explores …