Malte Spielmann
University Hospital Schleswig-Holstein
Germany

The Dark Side of the Genome: Challenges and Opportunities in the Post-Genomic Era

Clinical genome sequencing has become a reality in most European countries. However, more than 50% of rare disease patients remain without a molecular diagnosis even after undergoing advanced genomic testing. One possible reason for this gap is the lack of focus on the "dark side" of the genome—the 98% that is non-coding—which is often overlooked when diagnosing patients or studying cancer biology.

In my presentation, I will discuss the role of non-coding mutations and structural variants in causing human disease. Our research aims to understand the pleiotropic effects of these mutations and structural variants during embryogenesis, as well as their impact on the 3D architecture of the genome.
To achieve these objectives, we leverage cutting-edge, high-throughput technologies during mouse embryonic development, including single-cell analysis, chromosome conformation capture techniques, and massively parallel reporter assays.