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News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes … used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … nervous system in babies with Tay-Sachs. Another avenue of research is gene therapy in which scientists transfer a … disease occur in populations thought not to be at high risk. Prenatal testing for Tay-Sachs can be performed …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Researchers at the National Human Genome Research Institute (NHGRI) are working with patients and … a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to … treatments, and better ways of managing diseases with genetic components. Participants in studies are actively …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… are available. As someone who previously led an active research program in comparative genomics, I was pleased to … groups on helping families prepare for a child with a genetic condition Craig et al. J Community Genet . 2023 Apr … In the past 10 years, the ability to screen for genetic conditions during pregnancy has improved …
EDUCATION
The Talking Glossary features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute.
… Loading... … Talking Glossary of Genomic and Genetic Terms … The Talking Glossary features more than 250 common genetic terms pronounced and explained in an … scientists and professionals at the National Human Genome Research Institute. … The Talking Glossary features more than …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… canines may come to our aid-as a powerful animal model for research into human cancer. … A genetic mutation that triggers bladder cancer in dogs is … around drug resistance. Moreover, "because of the very high frequency of the mutation, examination of the dog tumors …
Research Funding
Policies and guidance regarding research funding from the NHGRI and the National Institutes of Health.
… federal agency responsible for biomedical and behavioral research and research training. As such, it is accountable to Congress and … the general public for responsible stewardship of federal research dollars. Sound management of research funds requires …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
… - a group that provides expert external oversight for all research and training ongoing in the NHGRI Division of … Genome Project to the bedside of those afflicted with a genetic disease. … The National Human Genome Research … institutions worldwide, have embarked on a number of high-risk efforts to unearth clues about the complex genetic …
Clinical Research
The Institutional Review Board (IRB) is responsible for protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural investigators in NHGRI and a number of other institutes.
… protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural … Privacy Of Research Participants, Clinical Trials, Genetic Disorders, Return Of Results, Genetic Discrimination … The Institutional Review Board …
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.
… more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the …