At the current time there is no mouse model in the world that we are aware of that is available for EHE research. Over the past 2 years Dr Rubin has been painstakingly working with other specialists to produce a genetically modified mouse model that has EHE. This has been done by genetically modifying the mice so that they have the key WWTR1(TAZ)-CAMTA1 EHE gene mutation and will produce the fusion gene that is believed to drive EHE. Earlier in the year Dr Rubin’s team managed to achieve germline transmission of the gene mutation in the mice (the transfer of the gene mutation from the parents to their young during reproduction).
These mice have been bred and allowed to grow, and in January 2018 Dr Rubin’s team will begin to see for the first time if the mice have in fact developed EHE tumours. If they have, we may finally have an EHE mouse model that can be bread and shared with other researchers interested in working to understand the disease. Dr Rubin said “we have taken probably the longest but most precise route to creating a genetically modified mouse model. The key question we now need to answer is do the mouse develop tumours, and if they do, are they the same as human EHE tumours?” This would of course be a huge step forward, so we keep our fingers crossed that Dr Rubin’s work delivers a valid EHE analogue that can be used in EHE research going forward.