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Development of a Point-of-Care system for early diagnostics of genetic diseases

Development of a Point-of-Care system for early diagnostics of genetic diseases
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96.39 kB
Author:
Radosław Kwapiszewski, Michał Chudy, Artur Dybko, Zbigniew Brzózka
Email:
rkwapiszewski[at]ch[dot]pw[dot]edu[dot]pl
Date:
14 August 2013
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Abstract: Lysosomal storage disorders (LSDs) represent a group of more than 45 genetically inherited diseases caused by the absence or defi ciency of one or more specifi c lysosomal enzymes. Nowadays, there is a lack of reports on fast, reliable methods for the diagnostics of LSDs. Currently applied diagnostic approaches generate many false-negative and false-positive results, which results in classifi cation of patients to inappropriate therapeutic groups. Moreover, these methods are time-consuming (even 20 hours), and are carried out only in a few laboratories in the world. Th e goal of this work was to develop a method and a tool, a Point-of-Care system, for diagnostics of LSDs. Th e polymeric microdevice consists of a cell lysis module, a mixing microchannel and an optical detection module. Th e system enables to determine the activity of -galactosidase (defi cient in Fabry disease), and to reduce the time of analysis to 10 min. Due to its easy fabrication steps and low price, it seems to be a prospective tool for a point-of-care approach.

Keywords: lysosomal storage disorders, Fabry disease, Gaucher disease, early diagnostics, intracellular enzyme activity, Point-of-Care system, lab-on-a-chip system

Area: Biomedical Engineering

BibTeX:

@article{Kwapiszewski2012,
  author = {Radosław Kwapiszewski and Michał Chudy and Artur Dybko and Zbigniew Brzózka},
  title = {Development of a Point-of-Care system for early diagnostics of genetic diseases},
  journal = {Challenges of Modern Technology},
  year = {2012},
  volume = {3},
  number = {2},
  pages = {6--8},
  url = {http://www.journal.young-scientists.eu/index.php/isuues/file/84-development-of-a-point-of-care-system-for-early-diagnostics-of-genetic-diseases}
}
 
 

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