Implementing RNA analysis in human genetics: from gene expression profiling to integrated omics analyses

Title : Implementing RNA analysis in human genetics: from gene expression profiling to integrated omics analyses

Abstract:

First applications of RNA analysis in human genetics aimed mainly at detecting splicing defects and loss or gain of gene expression. More recent developments of RNA-analyses are focusing on the use of gene expression changes as biomarkers for disease diagnostic, monitoring response to treatments or for the selection of targeted medication as in cancer therapy. By using blood RNA-seq analysis, we developed a strategy enabling both the comprehensive analysis of disease and the validation of genomic events in rare and common genetic disorders. We are using high-throughput and standardized protocols to monitor gene expression in blood and to systematically investigate the impact of mutations detected using whole-genome sequencing in splicing and in regulatory elements. Similarly, we optimized RNA-seq protocols for tumor FFPE material for the use in clinical oncology to estimate the therapeutic relevance of somatic mutations detected by NGS-based DNA panel or exome sequencing. Furthermore, cancer RNA-seq facilitate the detection of loss of heterozygosity as well as gene fusion, which is more sensitive and specific than DNA-seq based detection of such events. We will present how ongoing developments using unique molecular identifiers, single-cell sequencing or long-read sequencing will lead to novel applications of RNA diagnostics such as the identification of infection or immune response related to therapy.

What will audience learn from your presentation?

• In this oral presentation, I will introduce how RNA-sequencing can be used in diagnostics to validate genomic variants and to prioritize actionable genes
• The presentation aims to briefly introduce the audience to modern molecular genetic diagnostics methods, highlighting current difficulties and proposing alternative solutions
• Description of the solutions using latest technological developments will be integrated by concrete applications in human genetics research
• All the tools and solutions proposed in this presentation are available either as commercial products or research services. They can be implemented in modern genomic facilities or genetic research laboratories

Biography:

Dr. Nicolas Casadei studied Organic Chemistry at Besancon University, France. He graduated as an MS in Pharmacology in 2008. He joined the research group of Prof. Riess at the Institute of Human Genetics of the University Hospital of Tübingen, Germany where he received his PhD degree in neuroscience in 2015. After a one-year postdoctoral fellowship, Dr. Casadei is leading the genomics core facility at the University Hospital Tübingen and is coordinating the NGS Competence Center. He received an MBA in 2020 at the University Bicocca, Italy. The core facility performed over 100 studies in 2021 and Dr. Casadei published 28 research articles.