How has a groundbreaking genomic discovery impacted thousands worldwide?
In this episode: delve into the impact of the new groundbreaking research uncovering the RNU4-2 genetic variant linked to neurodevelopmental conditions. The discovery, made possible through whole genome sequencing, highlights a genetic change in the RNU4-2 gene that affects about 1 in 200 undiagnosed children with neurodevelopmental conditions, making it more prevalent than previously thought. This discovery represents one of the most common single-gene genetic causes of such conditions.
Naimah Callachand, Head of Product Engagement and Growth at Genomics England, is joined by Lindsay Pearse who shares her journey through the diagnosis of her son Lars. They are also joined by Sarah Wynn, CEO of Unique, and Emma Baple, Clinical Genetics Doctor and Professor of Genomic Medicine in the University of Exeter and the Medical Director of the Southwest NHS Genomic Laboratory Hub.
Hear from the 2 research groups who independently discovered the findings:
Dr Andrew Mumford, Professor of Haematology at the University of Bristol
Assistant Professor Nicky Whiffin, Big Data Institute and Centre for Human Genetics at the University of Oxford
