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Managing Bardet-Biedl Syndrome-Now and in the Future

Forsythe, E; Kenny, J; Bacchelli, C; Beales, PL; (2018) Managing Bardet-Biedl Syndrome-Now and in the Future. Frontiers in Pediatrics , 6 , Article 23. 10.3389/fped.2018.00023. Green open access

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Abstract

Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date. It is one of the most well-studied conditions in the family of diseases caused by defective cilia collectively known as ciliopathies. In this review, we provide an update on diagnostic developments, clinical features, and progress in the management of Bardet–Biedl syndrome. Advances in diagnostic technologies including exome and whole genome sequencing are expanding the spectrum of patients who are diagnosed with Bardet–Biedl syndrome and increasing the number of cases with diagnostic uncertainty. As a result of the diagnostic developments, a small number of patients with only one or two clinical features of Bardet–Biedl syndrome are being diagnosed. Our understanding of the syndrome-associated renal disease has evolved and is reviewed here. Novel interventions are developing at a rapid pace and are explored in this review including genetic therapeutics such as gene therapy, exon skipping therapy, nonsense suppression therapy, and gene editing. Other non-genetic therapies such as gene repurposing, targeted therapies, and non-pharmacological interventions are also discussed.

Type: Article
Title: Managing Bardet-Biedl Syndrome-Now and in the Future
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fped.2018.00023
Publisher version: http://dx.doi.org/10.3389/fped.2018.00023
Language: English
Additional information: © 2018 Forsythe, Kenny, Bacchelli and Beales. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Keywords: Bardet-Biedl syndrome, genetic therapies, pharmacogenomics, genome editing, targeted therapies, drug repurposing, PLURIPOTENT STEM-CELLS, RETINAL DEGENERATIVE DISEASES, PREMATURE TERMINATION CODONS, PRIMARY CILIARY DYSKINESIA, GENE-THERAPY, ANTISENSE OLIGONUCLEOTIDE, MUSCULAR-DYSTROPHY, RENAL-DISEASE, MUTATIONS, CILIOPATHIES
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/10044946
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