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News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… Steven Benowitz … As a growing number of medical centers and laboratories are sequencing patients' DNA, they continue to uncover millions of DNA differences in genes and the regions between the … researchers know little about their roles in health and disease. Clinicians and researchers hope to use information …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… ancestrally diverse populations. … The National Institutes of Health is establishing the Multi-Omics for Health and Disease Consortium , with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… Raymond MacDougall … The National Institutes of Health has awarded grants to six medical centers around … medical conditions from nearly every state, the District of Columbia and seven foreign countries. The network builds … 15 genes not previously associated with any other human disease. A combination of genomic and clinical analyses …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… with rare and undiagnosed diseases. … The Department of Health and Human Services (HHS) has awarded National Human … Investigator, NHGRI. Credit: Maggie Bartlett, NHGRI. One of the highest honors bestowed by HHS, the Career Achievement … involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology … He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
… (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made … engineering, in an attempt to alter the characteristics of an organism. … GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Dr. Daniel Kastner in the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to … a CLIA-certified laboratory for autoinflammatory disease diagnostics in the IDS. Her scientific …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… Prabarna Ganguly, Ph.D. … Study of millions of people from diverse ancestral groups substantially … cholesterol levels, a major risk factor for heart disease. The study, published in the journal Nature , was …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… Dominant Disorder … Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, … (one from each parent) to cause the disorder. Huntington’s disease is an example of an autosomal dominant genetic …
Talking Glossary
Un GMO (la abreviatura de “organismo modificado genéticamente”) es una planta, animal o microbio en el cual se introdujeron uno o más cambios en el genoma, por lo general mediante ingeniería genética, para tratar de alterar las características del organismo.
… de “organismo modificado genéticamente”) es una planta, animal o microbio en el cual se introdujeron uno o más … (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made … engineering, in an attempt to alter the characteristics of an organism. Genes can be introduced, enhanced or deleted …