We are on the perpetual quest to identify genetic mechanisms causing or modifying the progression of neurodegenerative diseases. Generally, we employ the classical two-stage genetic approach:
At the initial genetic mutation discovery stage, we investigate large pedigrees of multiple affected members to nominate a genetic mutation. Mutations found to co-segregate with the disease status in the families are further examined in case-control series of unrelated individuals.
The Biocomputing and Genetic Statistics team then conducts further analysis to futher substantiate our genetic findings.
To facilitate our genetic mutation discovery efforts, we utilize a wide range of high throughput sequencing and genotyping platforms. We have established a next-generation sequencing (NGS) pipeline with the SOLiD 5500xl™ and Ion Proton™ sequencers, and have developed a series of gene panels comprising of genes known to play a role in the different neurodegenerative disorders. Our NGS pipeline allows us to sequence more than 100 genes in 96 subjects in a single assay.