Molecular Diagnostics Core
Specific Aims and Tasks
Provide DNA sequencing and analysis of samples from individuals with epilepsy who have died prematurely or who have a high clinical risk of SUDEP
- Sample preparation, logging, and organization of human specimens and induced pluripotent stem cells (iPSCs) provided by Project 1 (Goldman, SUDEP cases) and Project 3 (Parent/IPSCs of Dravet Syndrome cases), and the Clinical Network. All submitted samples will be prepared with optimal quality control, issued uniform identifiers, and submitted for sequencing.
- Genomic variant detection in DNA samples using multiple analysis platforms. This aim will enable research discovery of novel SUDEP genes and profiles.
- Variant consolidation, curation, and analysis. This step allows detection and profiling
- Detection of deleterious mutations in known SUDEP risk genes in living epilepsy patients. De novo mutations in known LQT genes linked to SUDEP will be translated into clinical practice by contacting the referring physician with advice to seek additional physician referral, CLIA approved testing and genetic counseling where appropriate.
- Provide a web-based interface for secure interactive variant curation and data sharing. This will facilitate the discovery process and cohort refinement for planned studies to integrate research genomics data and clinical electrophysiological data by working with SRA project directors to develop a predictive risk assessment algorithm for epilepsy patients and their families, and precision molecular autopsy of SUDEP cases. This step will manage the submission of all DNA sequence data and phenotype into NIH public repositories (dbGAP).
The Core will also assist the Administrative core to optimize case resource utilization and facilitate data exchange, analysis, and communication among the SRA projects, cores, and research stakeholders (NINDS, advocacy groups, and patients).
- Alica M. Goldman, MD, PhD
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