What happens after a new rare genetic condition is discovered?

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, Co-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