4/15/26 - Nicky Whiffin

“Recently, advances in genome targeting therapies, including CRISPR and antisense oligonucleotides (ASOs), mean that these RNUopathy discoveries come at a time when we have the tools to potentially treat them. Moreover, ReNU syndrome hits that sweet-spot for a rare disorder where it is common enough to be an attractive target for pharmaceutical companies and for us to be able to conduct clinical trials.”

5/20/2025 - Ingo Helbig

“What you need to know. RNU4-2-related neurodevelopmental disorder (ReNU Syndrome) is an emerging neurodevelopmental disorder typically missed on traditional exome sequencing. ReNU Syndrome is relatively common amongst monogenic neurodevelopmental disorders and appears to have a relatively high frequency of seizures, comparable to SNC2A- or STXBP1-related disorders. The genetic basis of ReNU Syndrome is unusual, as the RNU4-2 gene codes for a small nuclear RNA rather than a protein.”

4/16/25 - Nicky Whiffin

“Here are three key things that we discovered:

(1) DNA changes that cause ReNU syndrome are more damaging than DNA changes that we see in healthy individuals…

(2) Different DNA changes may cause ReNU syndrome that is more or less severe…

(3) ReNU syndrome is not the only neurodevelopmental disorder caused by variants in RNU4-2…”

8/15/24 - Nicky Whiffin

“For many families a genetic diagnosis is a huge relief and acknowledgement that they are not to blame for their child’s delays or features and it wasn’t anything they did before or during pregnancy that caused the disorder. For others it can help them and other family members make a decision to have another child; as the condition is de novo which means it hasn’t been inherited from either parent, the chance of the condition happening again is extremely low. But perhaps the biggest impact families have experienced so far is the opportunity to connect with other families, to realise they are not alone in this journey, and to learn how the future may look for their child.”