Small nuclear RNAs (snRNAs) are essential components of the major and minor spliceosome complexes. Recent discoveries have revealed that variants in snRNA genes cause highly prevalent dominant and recessive neurodevelopmental disorders.

This webinar explored the latest advances in the identification and characterisation of these conditions, collectively known as 'RNUopathies' and examined how disruptions to fundamental splicing machinery contribute to neurodevelopmental disease. 

Invited Speaker:

• Associate Professor Nicky Whiffin, Big Data Institute and Centre for Human Genetics, UK. 

This webinar was chaired by Dr Sebastian Fica, University of Oxford, UK.