CACNA1A Portal that enables global aggregation of clinical, genetic, and molecular data for CACNA1A genetic variants
$55,000 Grant | Awarded March 2022
Dennis Lal, Ph.D. | Assistant Professor in the Department of Molecular Medicine in the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University (CCLCM)
Abstract: We propose the creation of a global online portal to support research into CACNA1A phenotypes. We will provide a platform that will link researchers, clinicians, and families worldwide. By collaborating with existing CACNA1A researchers, we will aggregate and harmonize multiple sources of clinical, genetic, and functional data generated to study CACNA1A-related disorders into a single, unified resource. By combining these multiple data sources, we aim to more clearly characterize the clinical spectrum of CACNA1A-related disorders and define clinical profiles that can be tied to specific genetic variation in CACNA1A. The platform will improve clinical variant interpretation, support clinical management, identify diagnostic and/or predictive biomarkers for clinical trials. In addition, we will empower families through educational resources, including novel info videos tailored to the community's needs. The content of these videos will be designed by CACNA1A experts in collaboration with advocacy organizations. The portal will be accessible for everyone, eliminating data silos.
Dennis is Assistant Professor in the Department of Molecular Medicine in the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University (CCLCM) and Assistant Staff in the Genomic Medicine Institute with a secondary staff appointment in the Neurological Institute’s Epilepsy Center, both Cleveland, US. In addition to his primary appointments in Cleveland, he is Visiting Scientist at the Broad Institute of Harvard and M.I.T., Cambridge, US as well as Group Leader at the Cologne Center for Genomics, Cologne, Germany.