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Fact Sheet
Sickle cell disease resources for patients
… welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to use … the Difference Between Gene Therapy, Cell Therapy and Gene Editing? (video) American Society of Gene & Cell Therapy …
Event
We invite scholars to submit ideas to be one of six to seven speakers at our symposium, “Irreducible Subjects: Disability and Genomics in the Past, Present, and Future”, with an additional opportunity to join a collected set of papers on the same theme.
… and enhancement, as well as how some rhetoric around gene editing reflects the same utopian valorization of the … medicine, advancements in reproductive technologies and gene therapies have had enormous positive benefits for …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… test variants to determine which ones can affect gene expression in common human diseases. Hyejung Won, Ph.D. … variants in the regulatory elements increase or decrease gene activity and how the variants are affecting traits in … at the Massachusetts General Hospital, is combining genome-editing tools and computational methods to study genomic …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… Diseases Information Center (GARD) . … Genomics Research Gene-editing advance puts more gene-based cures within reach Notable accomplishments in …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… (those that are caused by variants in more than one gene), such as coronary heart disease, diabetes, and … shares NIH’s perspective on the potential of CRISPR genome-editing systems with Southwestern Medical Foundation’s … of the All of Us Research Program NIH Director on human gene editing: 'We must never allow our technology to eclipse …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… and develop methods to determine how they contribute to gene regulation in a variety of cell types and model systems. … functional elements in healthy individuals; but gene expression may be regulated differently in people that … elements through methods like CRISPR-Cas9, a gene-editing technique that can precisely clip out sections of the …
Event
Opening remarks from Eric Green, Christopher Donohue and Michael Rembis.
… prenatal screening and diagnosis as well as emerging gene-editing techniques could lead to the disappearance of certain …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched … As of February 1, 2019, ClinGen has classified 670 gene-disease pairs. ClinGen is primarily funded by the NHGRI, … in People with Proteus Syndrome More Progress Toward Gene Editing for Kids with Muscular Dystrophy Pregnant Women Want …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… samples, including exome and whole-genome sequencing, gene-expression profiling, copy-number variation profiling, … Prize In a Profile for STAT, Dr. Collins Discusses Gene-Editing as a Potential for Cures and Data Accessibility …
The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… that used positional cloning to identify MEFV, the gene mutated in familial Mediterranean fever (FMF). MEFV … Project Releases First 15 High-Quality Reference Genomes Gene Editing in Dogs Boosts Hope for Kids with Muscular Dystrophy …