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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 …
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 …
File
… 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. ​
… 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 …
File
… 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.