The ERN Preceptorship experience in The Cyprus Institute of Neurology and Genetics

«In November 2022, we hosted the preceptorship in hemoglobinopathies at the Cyprus Institute of Neurology and Genetics in Nicosia, Cyprus. It was a great opportunity to meet face-to-face with Dr Celeste Bento, share knowledge and work together for two weeks. We discussed several topics related to haemoglobinopathies and other rare anaemias, including molecular diagnosis, gene therapy, standardised variant interpretation with ACMG/AMP guidelines, patient registries like RADeep and ENROL, the ITHANET portal and the International Hemoglobinopathy Research Network (INHERENT). Overall, it was a fantastic experience and we hope that we can repeat it in the future.» Dr. Petros Kountouris & Prof. Marina Kleanthous, Coordinators of the Preceptorship from The Cyprus Institute of Neurology and Genetics (Archbishop Makarios III Hospital)

The ERN-EuroBloodNet preceptorship in Hemoglobinopathies at the Cyprus Institute for Neurology and Genetics (CING), coordinated by Dr. Petros Kountouris and Prof. Marina Kleanthous, was an opportunity to share expertise face-to-face, work and learn "in situ", expand knowledge and, above all, being present and absorbing the culture and way of life. It was an opportunity to discuss the results of high-throughput methodologies for thalassemia and other rare cases of anaemia, learn about recent advances in gene therapy for hemoglobinopathies with Carsten Leaderer and his team, discuss the RADeep database and ITHANET platforms, like IthaPhen and IthaGenes, and collaborate on the Expert Panel on Curating Hemoglobinopathy Variants. I can say that it was an immersive experience. During those two weeks I was like a member of the team, working together, attending meetings, talking over lunch and going out to dinner together! I recommend this type of experience, not only for new ones who are just starting out but also for those who, like me, have been in the field for a long time and need to innovate. Going to another reference centre, even if it is for a short period of time, allows you to empathize, be inspired and learn in a different environment of excellence. Dr Celeste Bento, Participant (Centro Hospitalar e Universitário de Coimbra, EPE)