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News Release
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.
… the U.S. Food and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in … One of the new sickle cell treatments uses the CRISPR gene-editing system, a first for humans in the U.S. NIH … The Democratizing Education for Sickle Cell Disease Gene Therapy Project , a collaborative effort that aims to help …
Virtual Exhibit
The Gene Sweepstakes — or GeneSweep as it became popularly known — was a three-year-long, sweepstakes-style contest organized by British bioinformatician Ewan Birney, Ph.D., of the European Bioinformatics Institute. Scientists participated in the contest by betting on the total number of protein-coding genes that would be identified in the human genome sequence generated by the Human Genome Project.
… Collins, M.D., Ph.D. included a section dedicated to the “Gene Sweepstake,” pointing out that the basis of GeneSweep … was scientifically unclear — that is, what exactly is a gene? At a basic level, a gene is considered to be a region of the genome that codes …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… research focused on adeno-associated virus (AAV) gene therapy for the treatment of hemophilia A, a genetically … Dr. Chandler’s research has focused on the efficacy of gene therapy as a treatment for rare genetic disorders, such …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… Our investigators and their research teams develop gene addition therapy and gene editing approaches to treat metabolic disorders, study …
The Genomics Landscape
In the April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… below, the two-part documentary, “Ken Burns Presents The Gene: An Intimate History ,” will debut on PBS stations on … with the new PBS documentary, “Ken Burns Presents The Gene: An Intimate History ,” based on the book by Siddhartha … begins Genomic study points to natural origin of COVID-19 Gene mutation enhances cognitive flexibility in mice, NIH …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… of NHGRI's Zebrafish Core. "They can request any single gene or multiple genes in a pathway they want knocked out," … These findings can be specific mutations that cause the gene to lose its normal function, lead to alternate functions … on or off. The next question to ask is: Does the same gene when knocked out in fish mimic the disease in humans? By …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… with both population scientists and clinicians to define gene profiles that offer predictability in terms of cancer …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of … how genetic changes affect the structure and function of gene products leading to human disease. … The Genetic Disease … how genetic changes affect the structure and function of gene products leading to human disease. … Research at NHGRI …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… elements, which act as “switches” to regulate gene transcription. The ENCODE findings point to millions of … bind to DNA, and how RNA molecules interact to regulate gene expression. The results reported in the ENCODE 3 … variation outside of protein-coding regions can influence gene expression. The ENCODE Project began in 2003, shortly …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
… Next we use these heritable brain phenotypes for both gene discovery (through GWAS) and gene understanding. Translational studies: We are attempting … National Human Genome Research Institute. … Philip Shaw, gene-environment interactions, attention deficit …