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Recent Advances in Nephrogenetics and Molecular Diagnostics: Are Current Approaches Becoming Obsolete?

Issue: Vol.8, No.4 - October 2009

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Article Type: Manuscript

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  1. Dr Constantinos Deltas
    PharmR, PhD
    Professor of Genetics and Chair, Department of Biological Sciences, Head, Laboratory of Molecular and Medical Genetics, University of Cyprus
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Molecular diagnostics is a promising scientific sector on the rise, enhanced to a great extent by technological developments. Massive mutation screening methods and direct automated DNA sequencing have enabled researchers and diagnostics laboratories to identify frequent and rare genetic defects, thus contributing to medical translational research. Despite all the progress, the complexity of gene systems, even of monogenic disorders, makes molecular testing a formidable task, especially for relatively small molecular medicine laboratories. Nephrogenetics is one such field where genetic and consequent phenotypic heterogeneity are particularly complex, with tens of genes involved and interacting, often times in unpredictable ways, to cause disease. It turns out that useful approaches of the older generation will continue to be useful for many years to come, while supported and facilitated by more recent and advanced high throughput technologies.

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