De novo germline mutations in the DDX3X gene cause DDX3X syndrome, a neurodevelopmental condition with broad and diverse manifestations. DDX3X syndrome was first described (only) 10 years ago, which means it remains greatly underdiagnosed and a lot of research is still required to better understand the functional consequences of different DDX3X mutations observed in patients. 

The DDX3X Foundation is led by parents of children with DDX3X syndrome and they do an amazing job supporting families with this diagnosis, while also pro-actively lobbying and fundraising for increased research into this rare condition. They are exemplary at bringing together affected families, clinicians and basic researchers at their annual conference. 

My lab has been investigating different aspects of DDX3X function in cells for more than 20 years, with a particular focus on its role during viral infections. We hope that our research findings can contribute towards a better understanding of DDX3X syndrome and ultimately better management and treatment of the condition. 

Today we are fundraising to support the amazing work of the DDX3X foundation.