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

Humans Rare Diseases / genetics Genetic Therapy

Journal

American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745

Informations de publication

Date de publication:
03 2023
Historique:
revised: 14 12 2022
received: 15 08 2022
accepted: 16 12 2022
pubmed: 25 1 2023
medline: 28 3 2023
entrez: 24 1 2023
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1002/ajmg.c.32029 PMID: 36691939
pubmed: 36691939
doi: 10.1002/ajmg.c.32029
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

7-12

Informations de copyright

© 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.

Références

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Auteurs

Timothy W Yu (TW)

Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.

Stephen F Kingsmore (SF)

Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
ORCID: 0000-0001-7180-2527

Robert C Green (RC)

Department of Genetics-Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
ORCID: 0000-0001-8472-0424

Tippi MacKenzie (T)

Department of Surgery and the Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, California, USA.

Melissa Wasserstein (M)

Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore, New York, New York, USA.

Michele Caggana (M)

Division of Genetics, New York State Department of Health, Albany, New York, USA.

Nina B Gold (NB)

Massachusetts General Hospital Department of Pediatrics, Boston, Massachusetts, USA.

Annie Kennedy (A)

EveryLife Foundation for Rare Diseases, Washington, District of Columbia, USA.

Priya S Kishnani (PS)

Department of Pediatrics, Duke University, Durham, North Carolina, USA.

Matthew Might (M)

Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Phillip J Brooks (PJ)

Office of Rare Disease Research, National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA.

Jill A Morris (JA)

Division of Neuroscience, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
ORCID: 0000-0001-9026-5915

Melissa A 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.
ORCID: 0000-0001-6707-1004

Tiina K Urv (TK)

Office of Rare Disease Research, National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA.
ORCID: 0000-0002-2040-4972

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Are we prepared to deliver gene-targeted...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladies rares › Are we prepared to deliver gene-targeted...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Génie génétique › Thérapie génétique › Are we prepared to deliver gene-targeted...