🚀 New Episode Alert – RareMind: Podcast on Genomics & AI
🎙️ Episode 3 is live now: ReNU Syndrome – RNU4-2 Mutations and Neurodevelopmental Disorders
🧬 In this episode, we explore how RNU4-2, a non-coding RNA gene integral to the major spliceosome, has been identified as the cause of ReNU Syndrome, a newly recognized neurodevelopmental disorder.
🧠 Recent studies uncovered rare de novo variants clustered in an 18-base pair region of RNU4-2, associated with a consistent clinical phenotype: intellectual disability, microcephaly, short stature, and motor delay. These variants disrupt splicing fidelity and highlight the role of non-coding RNAs in the pathogenesis of rare disease.
🔬 This episode reveals how the search beyond protein-coding regions is reshaping our understanding of spliceosomal disorders and driving forward rare disease diagnostics.
🎧 Tune in now and be part of the growing movement transforming RNA biology into clinical insight.
#Genomics #RareDisease #RNA #Neurodevelopment #Spliceosome #ReNU #NonCodingRNA #Podcast #RareMind
Now that we have a diagnosis, what’s next? One of the most critical steps is to gather data to learn more about ReNU syndrome, so that we can apply these learnings towards treatment options. We’re using the Rare-X Data Collection Program to power the research forward.