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Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Kennedy Shriver National Institute of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical Genetics Branch at NHGRI. She oversees the research …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of … diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and …
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.
… by researchers from the National Institutes of Health and Partners Healthcare/Harvard Medical School.* … Diverse Groups Underrepresented in Genomic … significantly fewer studies of African, Latin American and Asian ancestral populations compared to European …
Policies and Guidance
The NHGRI funding policy is aimed at accelerating scientific and medical breakthroughs that improve human health.
… NHGRI supports the development of resources; methods and technologies that will accelerate research in … the biology of disease; advancing the science of medicine; and improving the effectiveness of healthcare. NHGRI also … funding policy is aimed at accelerating scientific and medical breakthroughs that improve human health. … Funding …
Staff
Reagan Moseti Mogire is a postdoctoral research fellow with a background in medical biochemistry, molecular biology, and genetic epidemiology.
… is a postdoctoral research fellow with a background in medical biochemistry, molecular biology, and genetic epidemiology. Awarded a Ph.D. in Genetic … UK, in 2022, he also holds an MSc in Molecular Biology and Biotechnology from Pan African University and a BSc in …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… Study of Patients with GNE Myopathy collects genetic and medical information from people with GNE myopathy. Patients are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is …
Strategic Plan
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs. …   Since the launch of the Human … emerging discipline to a vital area of biomedical research and a growing component of medical care, with far-reaching …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… for genomics research aimed at accelerating scientific and medical breakthroughs. … Accelerating Breakthroughs In … the strategic plan, the institute will engage experts and diverse public communities to identify paradigm-shifting …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Carlos Ferreira, M.D. … Dr. Carlos Ferreira went to medical school at the National University of Asunción, … a fellowship in Clinical Genetics at the NHGRI and Johns Hopkins Hospital Medical Genetics consortium (2012-2014), and a subspecialty in medical biochemical genetics at NHGRI …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to gain … research focuses on disorders of sialic acid metabolism and of lysosome-related organelles. Sialic acid is a … Ph.D. … Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research …