Are we prepared to deliver gene-targeted therapies for rare diseases?

Autor:	Yu TW; Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA., Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Green RC; Department of Genetics-Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA., MacKenzie T; Department of Surgery and the Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, California, USA., Wasserstein M; Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore, New York, New York, USA., Caggana M; Division of Genetics, New York State Department of Health, Albany, New York, USA., Gold NB; Massachusetts General Hospital Department of Pediatrics, Boston, Massachusetts, USA., Kennedy A; EveryLife Foundation for Rare Diseases, Washington, District of Columbia, USA., Kishnani PS; Department of Pediatrics, Duke University, Durham, North Carolina, USA., Might M; Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, Birmingham, Alabama, USA., Brooks PJ; Office of Rare Disease Research, National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA., Morris JA; Division of Neuroscience, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Parisi MA; Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Urv TK; Office of Rare Disease Research, National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA.
Jazyk:	angličtina
Zdroj:	American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2023 Mar; Vol. 193 (1), pp. 7-12. Date of Electronic Publication: 2023 Jan 24.
DOI:	10.1002/ajmg.c.32029
Abstrakt:	The cost and time needed to conduct whole-genome sequencing (WGS) have decreased significantly in the last 20 years. At the same time, the number of conditions with a known molecular basis has steadily increased, as has the number of investigational new drug applications for novel gene-based therapeutics. The prospect of precision gene-targeted therapy for all seems in reach… or is it? Here we consider practical and strategic considerations that need to be addressed to establish a foundation for the early, effective, and equitable delivery of these treatments. (© 2023 Wadsworth Center, New York State Department of Health and The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.)
Databáze:	MEDLINE
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