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News Release

ENCODE program directors in the Division of Genome Sciences turned to Reddit to answer questions from the Reddit community.

… mind as to why these sequences are so conserved. - Nadav CRISPR-Cas9, a gene editing tool which can be programmed to … The Reddit community was curious as to the impact CRISPR will have on the field of genomics. From medbud : … your work? From ENCODE_Project : Good question. The CRISPR tool has really revolutionized the way we study DNA …

News Release

Decades after rare disease diagnosis, family and physician hail genomic breakthrough

In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.

… d/areas-focus/project-spotlight/questions-and-answers-about-crispr" … d/areas-focus/project-spotlight/questions-and-answers-about-crispr">CRISPR-Cas9</a> might be used to edit the genomic …

Professional Development Programs

Short Course in Genomics

The Short Course in Genomics offers educators a chance to hear lectures and receive teaching resources from leading researchers, clinicians and staff.

… Branch, illustrates how to assemble a paper-based CRISPR-Cas9 kit for a hands-on CRISPR technology demonstration. Model is adapted from Origami Organelles™ CRISPR 00-031, ©2017 Discovering DNA Ltd. … The NHGRI Short …

Staff

Raman Sood, Ph.D.

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.

… mutagenesis using genome editing nucleases, particularly CRISPR/Cas9 to generate single or multiple gene knockout … generation and phenotypic characterization of zebrafish CRISPR mutants of DNA repair genes . DNA Repair 107: 103173. … associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model . Human Mutation , 41 (12): …

The Genomics Landscape

New Director of NHGRI's Division of Genome Sciences: Carolyn Hutter, Ph.D.

In the February 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the new director of NHGRI's Division of Genome Sciences.

… in NIH Peer Review: Responsibilities and Consequences CRISPR and the Centers of Excellence in Genomic Sciences Program Reddit AMA Transcript CRISPR Ask Me Anything Hits Reddit's Front Page NIH to Launch …

News Release

As genome-editing trials become more common, informed consent is changing

NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.

… survey and took part in focus group discussions about CRISPR somatic genome editing, an experimental treatment … informed consent to include the treatment side effects of CRISPR somatic genome editing. Many people also wanted to …

News Release

NIH statement on new FDA-approved gene therapies for sickle cell disease

The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.

… disease. One of the new sickle cell treatments uses the CRISPR gene-editing system, a first for humans in the U.S. …

News Release

Differences in our DNA have major influences on how our genomes function, but how?

Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.

… will use technologies based on the gene editing system CRISPR to add or change variants in the genomes and observe … liver cells. The researchers are also working to optimize CRISPR gene editing techniques in an effort to create new …

Staff

Cynthia Tifft, M.D., Ph.D.

Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.

… a patient with infantile Sandhoff disease and used the CRISPR/Cas system to correct the mutation and produce … gene expression studies. Likewise, the group has used CRISPR/Cas to create GM1 iPS cells with mutations in the … Core facility, the group has created and characterized a CRISPR/Cas knock-out mouse that recapitulates the phenotype …

Event

NHGRI at ASHG 2023 Annual Meeting

On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.

… Optimizing generation of human isogenic iPSC lines via CRISPR prime editing PB3446 Petcharat Leoyklang Cell-based … for genetic contribution. PB2092 Ted Han Genome wide CRISPR screen identifies ceramide-1-phosphate transporter as …