Toward Personalized Medicine in Bardet–Biedl Syndrome

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.

Keywords::

• Bardet–Biedl syndrome
• deep phenotyping
• exon skipping
• gene editing
• gene therapy
• next-generation sequencing
• personalized medicine
• pharmacogenomics
• read-through therapy
• targeted drug therapy

Financial & competing interests disclosure

J Kenny is funded in part by Innovate UK. E Forsythe is funded by the Medical Research Council. P Beales is an NIHR Senior Investigator. This work was supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre (GOSH BRC). The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Additional information

Funding

J Kenny is funded in part by Innovate UK. E Forsythe is funded by the Medical Research Council. P Beales is an NIHR Senior Investigator. This work was supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre (GOSH BRC). The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.