HUWE1.org has been created by the parents of a little boy with a pathogenic HUWE1 variant. Our son was diagnosed in 2015 and we have found there is still little information available to families. We have put together this site as a starting point for basic information and to share experiences of HUWE1 gene variants. We will also share latest research publications.

This site will not provide medical or therapeutic guidance and the stories provided here are purely for information.



Ursula and Alex Green are parents to Freddy, Lucas and Suzie. Lucas has a HUWE1 gene mutation, diagnosed when he was 4 years old. Ursula is a Digital Designer and has a PhD in Human Computer Interaction. Alex is a Financial Software Developer and has a PhD in Physics. They live in Wiltshire in the United Kingdom.

With thanks to...

We would also like to thank Dr Karen Low for her support in reviewing information on this website. Karen is a Consultant Clinical Geneticist at University Hospitals Bristol, UK.