Guillaume Cogan from the Paris Brain Institute in France and the National Institutes of Health in the US presented at London Calling 2024 on “Long-read sequencing to solve exome negative Parkinson’s disease.” Cogan explained that genetics and environmental susceptibility factors contribute to 90% of Parkinson’s disease in patients. However, 10% of patients have autosomal dominant or autosomal recessive elements. Fifteen genes have been identified. The Paris Brain Institute identified patients through multiple genetic testing. In collaboration with NIH CARD, the team identified patients with family connections and unexplained Parkinson’s. The team performed extensive sequencing. For one case, long-read sequencing identified a deletion and a duplication on different alleles. This outcome explains why previous detection methods did not provide a diagnosis. For a second case, long-read sequencing revealed a heterozygous deletion. Interestingly, this deletion was absent from databases, and this gene has known expression in the brain. Cogan explained that more analyses are needed, but they hope to identify more connections to this variant.
