The MSF is excited to announce that, thanks to research funding from our community donors, we now have a new mouse model, the p.R496C variant. Until now, researchers have only had a mouse model for one Myhre variant (p.R500C). Research studies indicate that the different variants can lead to distinct symptoms and experiences. Having the 496 variant means the specific genetic changes we see are now represented in the lab, and it opens the door to variant-specific gene-editing investigations.

Mouse models are essential because they allow scientists to study Myhre syndrome and, crucially, test potential treatments. You may have heard that the FDA (the US regulatory agency that approves new drugs and treatments) is moving toward more human-based research methods over time, which is exciting progress for science. For a rare condition like Myhre syndrome, mouse models remain among the most powerful tools we have right now to understand how these specific genetic variants function.

If you’re a researcher interested in using our model, please reach out to Armelle Pindon. All animals involved in this research are cared for in accordance with strict ethical guidelines to ensure their well-being throughout.