On The Genetics Podcast, Patrick is joined by Dr. Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at the Big Data Institute, University of Oxford. They discuss the discovery of a new neurodevelopmental syndrome caused by mutations in the small nuclear RNA gene RNU4-2, what this reveals about the non-coding genome and the spliceosome, and how large-scale genome sequencing is.

Sam was the 1st individual diagnosed with ReNU at the hospital in August 2025.

John Rinn on Discovering Drugs Based on Long Non-Coding RNA

John Rinn, professor at the University of Colorado and co-founder of Lincswitch Therapeutics, on exploring long non-coding RNA.

Featuring James Coney and his wife, Sarah, they share their 12-year journey to discover why their son, Charlie (now 13), has a severe learning disability, ultimately diagnosed through a scientific breakthrough regarding the RNU4-2 gene

Sarah Wynn, Emma Baple, Lindsay Pearse and Naimah Callachand: How has a groundbreaking genomic discovery impact thousands worldwide?