We’re sending extra special thanks today to our friends at ERN-ITHACA and ESHG-Y and Dr Rūta Marcinkutė, a native Lithuanian speaking senior clinical fellow at Guy’s and St Thomas’ in London, UK.

A few weeks ago we were contacted by a clinical geneticist with a request for one of our guides to be translated into Lithuanian for a non-English speaking family in the UK. Within minutes ERN-ITHACA and ESHG-Y had discussed with Dr Marcinkutė and she had kindly offered to volunteer her time to help proofread, amend and format an AI-assisted translation.

We are very happy to share that the final document was ready in time for the family’s genetics appointment!

Dr Marcinkutė told us: ‘When I received an email about this opportunity to translate the guide, that was such a beautiful surprise to me and beyond any doubts I wanted to collaborate and help as much as possible. Coming from a small country, I appreciate that we have a very limited amount of material for patients in our native language. I can’t tell you how happy I am about this wonderful opportunity.’

ERN-ITHACA is a patient centred European Reference Network that helps families with rare diagnosed and undiagnosed disorders including those associated with intellectual disabilities and neurodevelopmental disorders.

ESHG-Y is the European Society of Human Genetics Young genetics specialists members network.

View our information guides at www.rarechromo.org/disorder-guides