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

Timothy W Yu; Stephen F Kingsmore; Robert C Green; Tippi MacKenzie; Melissa Wasserstein; Michele Caggana; Nina B Gold; Annie Kennedy; Priya S Kishnani; Matthew Might; Phillip J Brooks; Jill A Morris; Melissa A Parisi; Tiina K Urv

doi:10.1002/ajmg.c.32029

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

Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):7-12. doi: 10.1002/ajmg.c.32029. Epub 2023 Jan 24.

Authors

Affiliations

¹ Division of Genetics and Genomics, Harvard Medical School, Boston, Massachusetts, USA.
² Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
³ Department of Genetics-Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
⁴ Department of Surgery and the Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, San Francisco, California, USA.
⁵ Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore, New York, New York, USA.
⁶ Division of Genetics, New York State Department of Health, Albany, New York, USA.
⁷ Massachusetts General Hospital Department of Pediatrics, Boston, Massachusetts, USA.
⁸ EveryLife Foundation for Rare Diseases, Washington, District of Columbia, USA.
⁹ Department of Pediatrics, Duke University, Durham, North Carolina, USA.
¹⁰ Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, Birmingham, Alabama, USA.
¹¹ Office of Rare Disease Research, National Center for Advancing Translational Science, National Institutes of Health, Bethesda, Maryland, USA.
¹² Division of Neuroscience, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
¹³ Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

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

Abstract

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.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Genetic Therapy*
Humans
Rare Diseases* / genetics
Rare Diseases* / therapy