Registry, in silico characterization of disease associated sites, data integration and clinical decision support for precision medicine in neurological ion channel and transporter disorders
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Despite recent progress, variant classification and therapeutic target identification in ion channel genes remain challenging and there is a large gap between the available knowledge on genetics and pathophysiology and the transfer to clinical treatment decisions and prognostic counselling. Subproject 2 will the collection of datasets in the developed registry including datasets provided by patients and relatives and further ion channel associated disorders such as neuropathic pain, establishing a CDSS (clinical decision support system) for genetic boards and neurologists to provide expert variant interpretation and available therapeutic possibilities to daily clinical practice and extending our structure-based prediction framework to include available ligand data and build an automated variant classification module for the CDSS.