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Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families

Campbell, Mary Beth and Campbell, Wesley C. and Rogers, James and Rogers, Natalie and Rogers, Zachary and van den Hurk, Anne Marie and Webb, Annie and Webb, Talon and Zaslaw, Paul (2018) Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families. Molecular Case Studies, 4 (2). Art. No. a002816. ISSN 2373-2865. PMCID PMC5880269. http://resolver.caltech.edu/CaltechAUTHORS:20180404-074657093

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Abstract

Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age. Cancer is the leading cause of death for persons with BS, and its early onset results in a reported median lifespan of <30 years. With fewer than 300 documented cases since BS was first described in 1954, its rarity has challenged progress in advancing both the care of and the cure for persons with BS. Presently, there are no known clinically actionable targets specific to persons with this cancer predisposition syndrome, despite the fact that standard cancer treatments are often contraindicated or must be substantially modified for persons with BS. Herein, Zachary Rogers recounts his experience as a cancer patient with BS contemplating a substantially customized chemotherapy regimen that highlights the need for development of individualized treatments in the BS community. We also outline a patient-centered research and community action road map with the goal of improving and prolonging the lives of persons with Bloom syndrome, including the facilitation of precision medicine development specific to this condition.


Item Type:Article
Related URLs:
URLURL TypeDescription
https://doi.org/10.1101/mcs.a002816DOIArticle
http://molecularcasestudies.cshlp.org/content/4/2/a002816PublisherArticle
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880269PubMed CentralArticle
Additional Information:© 2018 Campbell et al.; Published by Cold Spring Harbor Laboratory Press This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted reuse and redistribution provided that the original author and source are credited. We thank the Children's Cancer Therapy Development Institute and its Scientific Director, Dr. Charles Keller, for all of their work in hosting the 2017 Pediatric Cancer Nanocourse. We also thank the Bloom Syndrome speakers at the Nanocourse, including Dr. Chris Cunniff, Dr. Nathan Ellis, Dr. Mark Osborn, and Dr. Sharon Plon, for participating. The authors have declared no competing interest.
PubMed Central ID:PMC5880269
Record Number:CaltechAUTHORS:20180404-074657093
Persistent URL:http://resolver.caltech.edu/CaltechAUTHORS:20180404-074657093
Official Citation:Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families Mary Beth Campbell, Wesley C. Campbell, James Rogers, Natalie Rogers, Zachary Rogers, Anne Marie van den Hurk, Annie Webb, Talon Webb, and Paul Zaslaw Cold Spring Harb Mol Case Stud April 2018, 4: a002816
Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:85585
Collection:CaltechAUTHORS
Deposited By: Tony Diaz
Deposited On:04 Apr 2018 17:03
Last Modified:17 Apr 2018 16:00

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