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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
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 …
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 …
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 …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… affected family members, giving a stronger indication of genetic disease; however, we will also consider individual … patients. I have a patient with an interesting genetic variant. Whom should I contact? Genetic discoveries … Ivona Aksentijevich if you would like to further discuss research opportunities. … FAQ for Providers and Researchers … …
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 …
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 …
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 …
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 …
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 …