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- Genome Technology Program3
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Ethical, Legal and Social Implications (ELSI) Research Program1
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 …
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… have benefited from the creation and management of large, interdisciplinary 127 research collaborations. 128  … data that 250  8  keep pace with the generation of large and multidimensional datasets are needed; such 251 … 434 435 Enable the routine generation and use of synthetic nucleic acids in genomics 436 research. The …
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 …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… loan, or order them online. National Network of Libraries of Medicine (NNLM) nnlm.gov/members Designed to help you find health information from libraries in your area. LinkOut …
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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 …
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. …
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 …
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 …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… work, NHGRI intramural researchers must responsibly share large-scale genomic data with the broader research community. … Claire joined the NHGRI TTO in 1999. The office oversees a large range of activities that involve the exchange and … last year alone. This, Claire said, is likely an unusually large return in one year, the product of well-crafted patents …