Litcius/Paper detail

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

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

2023American Journal of Medical Genetics Part C Seminars in Medical Genetics17 citationsDOIOpen Access PDF

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.

Topics & Concepts

MedicineComputational biologyDrug approvalGene deletionBioinformaticsGeneIntensive care medicineDrugBiologyPharmacologyGeneticsMutantNeurogenetic and Muscular Disorders ResearchGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases