BSGM Lunch & Learn - July 2026: Integrative analysis of RNA, DNA and phenotype data uplifts diagnostic rates in rare disease cohorts

A BSGM 'Lunch and Learn' online session, bringing together members from across the Society to learn and discuss topics of interest to all.

RNA sequencing (RNA-seq) is a powerful complement to DNA sequencing for identifying pathogenic defects in gene expression and splicing in individuals with genetically undiagnosed rare diseases. However, as large rare disease consortia increasingly adopt RNA-seq, challenges arise from cohort heterogeneity, differences in tissue types and sample sizes, and variability in interpretation practices.

This talk will present methods for modeling gene expression and splicing and for integrating these findings with DNA and clinical evidence. Their diagnostic value will be illustrated using cases from cohorts comprising hundreds of rare disease patients, in which RNA-seq increased the diagnostic yield by 8-16%. The talk will include perspectives on additional omics technologies, long-read sequencing, and the path toward implementing RNA-seq in routine diagnostics.

Speaker
Dr Vicente Yépez is co-founder and Chief Scientific Officer at OmicsDiscoveries, a Munich-based company developing AI-enabled RNA-sequencing tools to accelerate genetic testing and rare-disease diagnosis. He is also a scientific researcher and lab scientific manager in Computational Molecular Medicine at the Technical University of Munich (TUM), where his work focuses on transcriptomics, functional genomics, and using RNA data to identify aberrant gene expression, splicing events, and disease-causing variants that may be missed by DNA testing alone. Vicente completed his PhD at TUM and has played leading roles in major European rare-disease initiatives, including co-heading the RNA-seq working group for Solve-RD and serving as a Clinical Research Network project manager for the European Rare Diseases Research Alliance (ERDERA). His publications span clinical implementation of RNA sequencing for Mendelian disease diagnostics, standardised transcriptome analysis, and collaborative multi-omics approaches that improve the diagnostic yield for patients with rare diseases.

All sessions will be recorded and available via the BSGM website for members unable to attend live.

If you are unable to attend and have any questions you would like to submit in advance please send them to the events team at events@rsb.org.uk

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