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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… two leading scientists have sketched out what doctors need to know in order to use the new technology effectively. … … implements technology to understand, diagnose and treat genomic and genetic diseases. The NHGRI Extramural Research … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on … Program . "Our work on ECD builds on the institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common disorders." ECD is caused by the accumulation of …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… mice with the disease; the treated animals were then found to have less severe NPC1 symptoms. … The study, led by … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Institutes of Health has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … affects one in every 50,000 to 100,000 people, but is more common in people of Ashkenazi Jewish ancestry. There are …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… Hanson's parents didn't know what caused their children to have weak facial muscles, cleft palates and curvature of … misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … Thirty-five years later, researchers have identified the genomic mutations responsible for CFZS (<a …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… isolation that we have been experiencing together due to COVID-19. NHGRI values a community and society in which … on increasing the diversity of the next generation of genomic researchers. The NHGRI Diversity Action Plan (DAP) … on Minority Health and Health Disparities, provides a common framework for studying SDOH across research programs. …
Staff
Dr. Simona Volpi is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… Dr. Volpi joined the Division of Genomic Medicine at the National Human Genome Research … a portfolio of extramural grants and contracts related to the Genotype-Tissue Expression (GTEx) Project as well as … National Human Genome Research Institute. … Simona Volpi, common diseases, Genotype-Tissue Expression Project (GTEx), …
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… time have used a combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of … orhard-to-grow microorganisms implicated in health and disease, according to a study published online the week of … Microbiome Project (HMP). The HMP is supported by the NIH Common Fund and coordinated by the National Human Genome …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… may not yet have jet packs or flying cars, but the ability to edit genomes precisely is now real. These new methods … be to "edit" that genome  - perhaps to cure a genetic disease or to alter the a trait in a plant or animal. … introduce mutations at the wrong sites rather than the genomic location being targeted. Many scientists are working …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… in 2001. Dr. Sood’s long-term research interest has been to understand the molecular basis of human genetic disorders. … Genome project, she became interested in the functional genomic analyses of genes using the zebrafish model. With … Institute. … Raman Sood, zebrafish, rare diseases, common diseases, genetic disease, animal models of disease … …