Subproject 2

Registry, in silico characterization of disease associated sites, data integration and clinical decision support for precision medicine in neurological ion channel and transporter disorders

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.