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?

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

Pediatrics

Research output: Contribution to journal › Comment/debate › peer-review

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.

Original language	English (US)
Journal	American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
DOIs	https://doi.org/10.1002/ajmg.c.32029
State	Accepted/In press - 2023

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1002/ajmg.c.32029

Cite this

Yu, T. W., Kingsmore, S. F., Green, R. C., MacKenzie, T., Wasserstein, M., Caggana, M., Gold, N. B., Kennedy, A., Kishnani, P. S., Might, M., Brooks, P. J., Morris, J. A., Parisi, M. A., & Urv, T. K. (Accepted/In press). Are we prepared to deliver gene-targeted therapies for rare diseases? American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. https://doi.org/10.1002/ajmg.c.32029

@article{ede28b6c09e34c1ea3dd7bd832b54fbb,

title = "Are we prepared to deliver gene-targeted therapies for rare diseases?",

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.",

author = "Yu, {Timothy W.} and Kingsmore, {Stephen F.} and Green, {Robert C.} and Tippi MacKenzie and Melissa Wasserstein and Michele Caggana and Gold, {Nina B.} and Annie Kennedy and Kishnani, {Priya S.} and Matthew Might and Brooks, {Phillip J.} and Morris, {Jill A.} and Parisi, {Melissa A.} and Urv, {Tiina K.}",

note = "Publisher Copyright: {\textcopyright} 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.",

year = "2023",

doi = "10.1002/ajmg.c.32029",

language = "English (US)",