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Content archived on 2024-05-21

Novel genechip technology for simplified detection of molecularly heterogeneous genetic diseases: detection of cystic fibrosis as a model

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Innovative cystic fibrosis diagnostics

Disease diagnosis is often closely related to the overall prognosis. It is therefore important to be able to diagnose diseases early on and efficiently.

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Gene array technologies have allowed the rapid detection of genetic mutations that are tell-tale signs of pathologies. The same is true for cystic fibrosis (CF) and cystic fibrosis-related conditions. Currently available screening platforms detect approximately 25 CF-linked mutations. The EC-funded CF-CHIP project focused on the development of a new gene array technology platform for high-throughput diagnosis of these diseases. As part of the project, plans were made for the development of an integrated magnetic sensor-based gene array. The diagnostic assays were to be partly based on the detection of qualitative or quantitative changes in RNA products resulting from mutations in specific genes. The new technologies will essentially be able to detect abnormalities in gene structures and expression patterns. The innovative aspect of the new technology is that it employs a panel of mutations with global application, and not specific to an individual region. A series of tests, using real patient samples (some of which carried extremely rare mutations) revealed a 99% accuracy rate. The results indicate that this new technology platform could signal a new era in CF diagnostics available to physicians.

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