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Toward personalized medicine in Bardet-Biedl syndrome

Kenny, J; Bacchelli, C; Forsythe, E; Beales, P; (2017) Toward personalized medicine in Bardet-Biedl syndrome. Personalized Medicine 10.2217/pme-2017-0019. (In press). Green open access

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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.

Type: Article
Title: Toward personalized medicine in Bardet-Biedl syndrome
Open access status: An open access version is available from UCL Discovery
DOI: 10.2217/pme-2017-0019
Publisher version: https://doi.org/10.2217/pme-2017-0019
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Bardet–Biedl syndrome, deep phenotyping, exon skipping, gene editing, gene therapy, next-generation sequencing, personalized medicine, pharmacogenomics, read-through therapy, targeted drug therapy
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1572552
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