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… ed a concept for three RFAs: Nucleic Acid Sequencing , Synthetic Nucleic Acids , and a Coordinating Center RFA . The … and novel clinical application s. The goal of the new Synthetic Nucleic Acids RFA is to produce cheaper, more accurate , and longer oligonucleotide s and very large synthetic constructs of double strand DNA with base …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… changing, but the methods currently being used look for large changes in the gene ( deletion/duplication ) and … blood pressure, behavior changes, and delayed growth. A synthetic form of prednisilone, called Deflazacort, is used …
Event
NHGRI hosts a virtual Q&A with science journalist Angela Saini, author of “Superior: The Return of Race Science” on Thursday, July 23, 2020.
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.
… academic labs. However, to be effective, the VTS-270 compound has to be given for the life of the mouse. The team …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… cancer as a genomic disease and driving innovation in large-scale genomics, analysis tools, and data sharing in … P., Kyrpides, N., Markowitz, V., Straatsma, T.P. Bringing large-scale multiple genome analysis one step closer: … J. A dynamic multiscale magnifying tool for exploring large sparse graphs. Information Visualization , 7: 105-117. …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… technologies improve, new methods are required to make large-scale genomic edits. Such technologies would be … sequences and other portions of the genome that span large intervals. In a recent study, researchers devised a new and efficient method for making large-scale edits to the genomes of mouse embryonic stem …
FAQ
Frequently asked questions from the May 23, 2023 informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… Resources ** Given the large number of resources available regarding the DMS Policy, … of research (e.g., clinical trials, research generating large-scale genomic data) continue to apply and complement … such as those listed by the Johns Hopkins Libraries or the UK Data Archive . Investigators are also …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers, clinicians and genetic testing laboratories. "Large-scale sequencing of whole genomes today often means …
Policy Issues
In June 2013, the Supreme Court determined that DNA in its natural form cannot be patented.
… this debate has occurred, there have been concerns that large numbers of patents associated with the human genome … subject matter. However, the court did find that cDNA, synthetic DNA molecules that contain only the exons of a …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… variables in genetic studies? There are currently large efforts to diversify the demographics of genetic … within and between individuals, families, and populations. Large-scale genetic, genomic, and phenotypic data now provide …