Comprehensive genetic diagnostics of thrombotic microangiopathies – a genetic test and clinical algorithm to predict risk of renal transplant failure
Thrombotic microangiopathies – TMAs – are important factors underlying chronic kidney disease, which leads to replacement renal treatment, including kidney transplantation. The risk of losing the transplanted organ is mainly dependent on genetic background of the patient. In consequence, genetic diagnostics prior to qualification for transplantation is recommended worldwide. Still, the diagnostic process is strenuous, multistage, time-consuming and expensive, and in >50% of patients unsatisfactory. The aim of this collaborative project is to develop a comprehensive, accurate and economical diagnostic test for TMA allowing for the prediction of the risk of renal transplant failure. We will employ the genomic sequencing i) to identify all the culprit mutations, ii) to design the test which detects all kinds of culprit mutations, including deletions, insertions, rearrangements, iii) to characterize genotype-phenotype correlation leading to the clinical risk prediction model.
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