Toward personalized medicine in Bardet-Biedl syndrome

Personalized Medicine
Joanna KennyChiara Bacchelli

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.

References

Oct 1, 1979·Proceedings of the National Academy of Sciences of the United States of America·R Losson, F Lacroute
Dec 1, 1989·Clinical Genetics·T I Farag, A S Teebi
Jul 1, 2004·Annals of Medicine·Erica R EichersJames R Lupski
Jan 8, 2005·American Journal of Medical Genetics. Part a·Susan J MoorePatrick S Parfrey
Dec 6, 2005·Nature·Jose L BadanoNicholas Katsanis
Aug 2, 2008·The British Journal of Ophthalmology·T Duelund HjortshøjT Rosenberg
May 8, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jonathan L Tobin, Philip L Beales
May 12, 2009·Nature Genetics·Hemant KhannaNicholas Katsanis
Jan 19, 2010·Proceedings of the National Academy of Sciences of the United States of America·Seongjin SeoVal C Sheffield
Apr 14, 2010·Archives of Ophthalmology·Eliot L BersonErnst J Schaefer
Aug 7, 2010·Human Mutation·Frauke CoppietersElfride De Baere
Jan 25, 2011·Nature Genetics·Erica E DavisNicholas Katsanis
Feb 4, 2011·Genes & Development·John B Wallingford, Brian Mitchell
Mar 30, 2011·Proceedings of the National Academy of Sciences of the United States of America·David L SimonsSamuel M Wu
Oct 18, 2011·American Journal of Medical Genetics. Part a·Maha S ZakiJoseph G Gleeson
Mar 14, 2012·Archives of Ophthalmology·Anthony B DanielsEliot L Berson
Apr 17, 2012·Human Mutation·Peter N Robinson
Jul 24, 2012·Pharmacology & Therapeutics·Hui-Ling Rose Lee, Joseph P Dougherty
Jan 5, 2013·Science·Le CongFeng Zhang
Aug 1, 2013·Investigative Ophthalmology & Visual Science·Seongjin SeoArlene V Drack
Mar 7, 2014·The New England Journal of Medicine·Pablo TebasCarl H June
May 29, 2014·Investigative Ophthalmology & Visual Science·Niccolò BacchiMichela A Denti
May 29, 2014·Acta Ophthalmologica·Masato AkiyamaTatsuro Ishibashi
Jun 24, 2014·Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association for Ocular Pharmacology and Therapeutics·Atul KumarAnnu Chohan
Jul 10, 2014·Scientific Reports·Katsuyuki NakamuraMasugi Nishihara
Mar 4, 2015·Proceedings of the National Academy of Sciences of the United States of America·Bijoyita RoyAllan Jacobson
Apr 2, 2015·Proceedings of the National Academy of Sciences of the United States of America·Aziz BelkadiLaurent Abel
Apr 22, 2015·Molecular Therapy : the Journal of the American Society of Gene Therapy·Daniel M LipinskiRobert E MacLaren
May 20, 2015·The Pharmacogenomics Journal·O AlagozK Kasirajan
Jun 18, 2015·Journal of Medical Genetics·Sheila Castro-SánchezDiana Valverde
Sep 9, 2015·Drug Design, Development and Therapy·Lunawati L Bennett, Kelsey Turcotte

❮ Previous
Next ❯

Citations

Mar 23, 2019·Investigative Ophthalmology & Visual Science·Viola KretschmerHelen Louise May-Simera
Mar 28, 2019·Frontiers in Genetics·Gabrielle WhewayUNKNOWN Genomics England Research Consortium
Jan 16, 2019·Advanced Science·Yuhei NishimuraMasaki Inagaki
Jul 7, 2020·Diabetes, Obesity & Metabolism·Robert HawsJack Yanovski

❮ Previous
Next ❯

Methods Mentioned

BETA
exome sequencing

Related Concepts

Related Feeds

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

Related Papers

Journal of Pediatric Genetics
Sheila Castro-SánchezDiana Valverde
Frontiers in Pediatrics
Elizabeth ForsythePhilip L Beales
Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia
Davide ViggianoNatale G De Santo
Nefrología : publicación oficial de la Sociedad Española Nefrologia
M Isabel Acosta-OchoaAntonio Molina-Miguel
© 2022 Meta ULC. All rights reserved