A framework for individualized splice-switching oligonucleotide therapy.

Child Humans Ataxia Telangiectasia / drug therapy Oligonucleotides, Antisense / genetics Prospective Studies RNA Splicing / drug effects Whole Genome Sequencing Introns Exons Precision Medicine Pilot Projects

Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
Jul 2023
Historique:
received: 22 03 2022
accepted: 25 05 2023
medline: 28 7 2023
pubmed: 13 7 2023
entrez: 12 7 2023
Statut: ppublish

Résumé

Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of individuals with genetic diseases

Identifiants

DOI: 10.1038/s41586-023-06277-0 PMID: 37438524 PMC: PMC10371869
pubmed: 37438524
doi: 10.1038/s41586-023-06277-0
pii: 10.1038/s41586-023-06277-0
pmc: PMC10371869
doi:

Substances chimiques

Oligonucleotides, Antisense 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

828-836

Subventions

Organisme : NIA NIH HHS
ID : DP2 AG072437
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000170
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2023. The Author(s).

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Auteurs

Jinkuk Kim (J)

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.
Biomedical Research Center, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.
KI for Health Science and Technology, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.
Center for Epidemic Preparedness, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.
ORCID: 0000-0003-0564-3294

Sijae Woo (S)

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea.

Claudio M de Gusmao (CM)

Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Postgraduate School of Medical Science, University of Campinas (UNICAMP), São Paulo, Brazil.

Boxun Zhao (B)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-2337-5756

Diana H Chin (DH)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
ORCID: 0000-0002-1645-3552

Renata L DiDonato (RL)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

Minh A Nguyen (MA)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

Tojo Nakayama (T)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-2110-6878

Chunguang April Hu (CA)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

Aubrie Soucy (A)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
ORCID: 0000-0001-8633-0032

Ashley Kuniholm (A)

Institutional Center for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA.

Jennifer Karlin Thornton (JK)

Ataxia Telangiectasia Children's Project, Coconut Creek, FL, USA.

Olivia Riccardi (O)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

Danielle A Friedman (DA)

Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

Christelle Moufawad El Achkar (CM)

Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Harvard Medical School, Boston, MA, USA.

Zane Dash (Z)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
ORCID: 0009-0002-7536-9622

Laura Cornelissen (L)

Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.

Carolina Donado (C)

Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.

Kamli N W Faour (KNW)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

Lynn W Bush (LW)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Center for Bioethics, Harvard Medical School, Boston, MA, USA.

Victoria Suslovitch (V)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

Claudia Lentucci (C)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

Peter J Park (PJ)

Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0001-9378-960X

Eunjung Alice Lee (EA)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0002-6574-9261

Al Patterson (A)

Harvard Medical School, Boston, MA, USA.
Department of Pharmacy, Boston Children's Hospital, Boston, MA, USA.

Anthony A Philippakis (AA)

Eric and Wendy Schmidt Center, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Brad Margus (B)

Ataxia Telangiectasia Children's Project, Coconut Creek, FL, USA.
ORCID: 0009-0009-5447-6630

Charles B Berde (CB)

Harvard Medical School, Boston, MA, USA.
Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.

Timothy W Yu (TW)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.
Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.
Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. timothy.yu@childrens.harvard.edu.
Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.
ORCID: 0000-0003-2988-7701

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