ESHG Webinar Series Episode 7 with Elfride de Baere

Multi-omics in inherited eye diseases: from missing heritability to new therapeutic opportunities Inherited eye diseases (IED) are a major cause of early-onset blindness and vision loss. A crucial step in their management is achieving a definitive genetic diagnosis and understanding disease pathogenesis. While advances in genomics have substantially improved IED diagnostics, many variants remain either difficult-to-detect or difficult-to-interpret, leading to missing heritability. In this talk, I will highlight a multi-omics framework to advance diagnosis in IED, integrating short-read and single-molecule genomics, transcriptomics (RNA-seq), and epigenomics. Addressing missing heritability not only improves diagnosis but also opens the door to new therapeutic opportunities.