Toward personalized medicine in Bardet–Biedl syndrome. (September 2017)

• Record Type: Journal Article
• Authors: Kenny, Joanna; Forsythe, Elizabeth; Beales, Philip; Bacchelli, Chiara
• Is Part Of: Personalized medicine. Volume 14:Number 5(2017)
• Page Start: 447
• Page End: 456
• Publication Date: 2017-09
• Subjects: Bardet–Biedl syndrome -- deep phenotyping -- exon skipping -- gene editing -- gene therapy -- next-generation sequencing -- personalized medicine -- pharmacogenomics -- read-through therapy -- targeted drug therapy; Pharmacogenomics -- Periodicals; Pharmacogenetics -- Periodicals; 615.19
• DOI: 10.2217/pme-2017-0019
• Languages: English
• ISSNs: 1741-0541

Abstract

Personalized medicine is becoming routine in the treatment of common diseases such as cancer, but has lagged behind in the field of rare diseases. It is currently in the early stages for the treatment of Bardet–Biedl syndrome. Advances in the understanding of ciliary biology and diagnostic techniques have opened up the prospect of treating BBS in a patient-specific manner. Owing to their structure and function, cilia provide an attractive therapeutic target and genetic therapies are being explored in ciliopathy treatment. Promising avenues include gene therapy, gene editing techniques and splice-correcting and read-through therapies. Targeted drug design has been successful in the treatment of genetic disease and research is underway in the discovery of known and novel drugs to treat Bardet–Biedl syndrome.