WEHI Postgraduate Seminar Series hosted by the Education Committee

Dr Mark Bennett
Senior Research Scientist – Bahlo Laboratory, Genetics and Gene Regulation division, WEHI

Hiding in plain sight: noncoding genes and their emerging role in neurodevelopmental disease
 

Davis Auditorium

Join via TEAMS

Including Q&A session

Since the advent of next-generation sequencing, thousands of genes have been linked to rare diseases. The breakthrough discovery in 2024 that the small nuclear RNA (snRNA) gene RNU4-2 is one of the most frequent genetic causes of neurodevelopmental disease has been rapidly followed by a series of related findings. Multiple noncoding snRNA genes, including RNU2-2, have now been identified as significant causes of severe neurodevelopmental disorders and epilepsies, adding to a growing picture of the spliceosome as a major hub of neurodevelopmental disease.

This talk will explore how these discoveries were made, why this important group of genes was overlooked for so long, and what other noncoding disease genes might still be hiding in plain sight. We will discuss recent work aiming to understand splicing dysfunction as a disease mechanism, and highlight the impact of these discoveries, from ending diagnostic odysseys to possibilities for new therapies.

All welcome!