The project aims to create a demo system for cost effective, non-invasive device for rapid detection of cystic fibrosis in
The detection of human recessive diseases has been dominated by the use of fluorescent biomarkers, based on organic
dyes, helping researchers to study and analyse gene expression, cell cycle, and enzymatic activity. Among several
proteolytic enzymes, trypsin has attracted much attention, as it is a target in the study of various important human recessive
diseases including, for example, cystic fibrosis (CF).
We present herein two colour encoded silica nanospheres (2nanoSi) for the fluorescence quantitative ratiometric
determination of cystic in humans. Current detection technologies for cystic fibrosis diagnosis are slow, costly and suffer
from false positives. The 2nanoSi proved to be a fast (minutes), a single-step and with two times higher sensitivity than the
state-of-the-art biomarkers based sensors for cystic fibrosis, allowing the quantification of trypsin concentrations in a wide
range (25-350 μg/L). Moreover, our approach can be used from the 4th day of life when the trypsin concentration is already
the same as in adults. Furthermore, as trypsin is directly related to the development of cystic fibrosis (CF), different human
phenotypes, i.e. normal (160-340 μg/L), CF homozygotic (0-90 μg/L), and CF heterozygotic (91-349 μg/L), respectively, can
be determined using our 2nanoSi nanospheres. We anticipate the 2nanoSi system to be a starting point for non-invasive,
easy-to-use and cost effective ratiometric fluorescence biomarker for recessive genetic diseases alike human cystic fibrosis.
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