Data integration And in silico Precision Medicine
The overall aim of the project is the improvement of precision medicine in rare neurological channelopathies/transporter diseases with a focus on genetic epilepsies. We will deliver a register for therapy effectivity in defined cases linked to a portal for precision medicine prediction.
Monogenic epilepsies are rare but represent a major clinical burden since many syndromes such as the developmental and epileptic encephalopathies are associated with psychomotor retardation and pharmaco-resistance. Until now, therapeutic options are limited, unspecific and often unable to prevent developmental problems. There is a huge gap between the description of novel genes and the development of specific and pathophysiology triggered treatment options.
Within this subproject we aim to bridge this gap by
(i) collecting treatment data for rare epilepsy syndromes and other rare neurological channelopathies/transporter diseases in a highly standardized and continuously updated patient registry and
(ii) investigating available data in scientific literature and online databases on potential ligands that may serve as novel therapeutic targets and/or agents. The register will be built on existing case collections, e.g. in co-operation with the NETRE collection (Network Treatment Rare Epilepsies) and be adjusted to current computational standards of database infrastructure and management. Data on therapeutic targets and agents will be generated by data mining techniques and will be evaluated by integrating clinical knowledge. Both approaches will set the basis for prospective clinical studies in rare genetic neurological syndromes by investigating novel treatment options that are specific to the underlying genetic defect.