Genetic rare disorders (including inherited cancer predisposition) are individually rare but collectively common, affecting 1 in 50 people, and accounting for half of all Hospital expenditure and the majority of NDIS spending.
Despite technical advances and falling costs of genomic sequencing, at even the most expert centres, more than half of individuals tested do not receive a molecular diagnosis, hampering their access to personalised treatment and targeted therapies. Our research shows, that for the majority of families undiagnosed by DNA testing, the answer can be found in their RNA.
Identifying and interpreting DNA variants that alter splicing is one of the current grand challenges in clinical genomics today. Faulty pre-mRNA splicing creates a faulty genetic blueprint for proteins, which are encoded incorrectly or not built at all, causing disease.
This talk will highlight: the prevalence of causal splicing variants in rare disorders; progress being made by SpliceACORD’s (the Australian Consortium for RNA Diagnostics) RNA for Rare Disease program which aims to develop standardized practices and quality standards for comprehensive integration of RNA Diagnostics into clinical practice; and, game-changing advances in evidence-based splicing prediction tools that predict if and how a DNA variant will alter splicing.