Episode
What happens after a new rare genetic condition is discovered?
- Podcast
- Behind the Genes
- Published
- Jul 29, 2026
- Duration seconds
- 1861
- Processing state
not_requested
Actions
POST https://stenobird.com/v1/public/podcasts/behind-the-genes-3509739/episodes/what-happens-after-a-new-rare-genetic-condition-is-discovered/transcription-requests
Idempotently request low-priority transcript generation for this episode.GET https://stenobird.com/podcast/behind-the-genes-3509739/what-happens-after-a-new-rare-genetic-condition-is-discovered.md
Read the agent-friendly Markdown representation of this episode resource.
Summary
Two years after researchers identified ReNU syndrome, where are we now? In 2024, two independent research teams identified the genetic cause of ReNU syndrome, a rare neurodevelopmental condition affecting thousands of people worldwide. The discovery marked the beginning of a new chapter for families searching for answers and opened up exciting new avenues for research. In this episode, host Sharon Jones revisits the story to explore what has happened since that breakthrough. She is joined by: Professor Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at Big Data Institute and Centre for Human Genetics, University of Oxford Christina Cox, Founder of ReNU Syndrome UK and parent of a child with ReNU syndrome Dr Ana Lisa Tavares, Clinical Lead for Rare Disease at Genomics England Together, they discuss how researchers around the world have built on the original discovery to deepen our understanding of ReNU syndrome, why studying the non-coding regions of our DNA is revealing previously unknown rare conditions, and how collaboration between researchers, clinicians and families is accelerating progress. They also explore how the growing ReNU community is supporting newly diagnosed families and what the future could hold for new treatments. Links: Previous episode detailing the discovery of ReNU Syndrome ReNU Syndrome UK's website Original research paper from Nicky's team in Oxford Original research paper from the team based in New York “It's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and the others. There's the one in the US that's led by a group of four women, and there are ones in France, Spain,…