Genetics and clinical diagnostics of mycoses

The clinical course of sepsis is also influenced by the genetic predisposition of the patient and rare gene sequence variants, so called single nucleotide polymorphisms (SNPs) are suspected to contribute. In two separate studies with sepsis patients we showed that SNPs indeed influence the disease course and the 28-days-mortality post sepsis, respectively (Scherag et al., 2016, Taudien et al, 2016). Several studies show that the risk for immunocompromised patients to suffer from an invasive mycosis can also be determined through genetic factors. In cooperation with Carvalho and L. Romani (Perugia) and by using data from an international genome wide association study AspIRS (Aspergillosis intrinsic risk stratification) coordinated by Fungal Septomics a risk marker for invasive aspergillosis (IA) in the pentraxin 3 locus has been identified. Stem cell transplanted patients are faced with increased risk for IA when this locus is mutated (Cunha et al., 2014). We are currently working on a study with >200 healthy individuals, to analyze the influence of SNPs on the immune response against multiple pathogens, that can cause systemic infections. These projects aim at identifying potential biomarker molecules in the medium-term that enable better molecular diagnostics of invasive infections in the future.

We are also working on improvements of diagnostic possibilities especially for invasive mycoses in other areas. This work is carried out within the frame of the National Reference Centre for Invasive Mycoses (NRZMyk), which provides diagnostic expertise to physicians from all over Germany.