Way back in 2010, the group that I formed part of at the University of Malta, together with the Dept. of Cell Biology and Genetics, Erasmus MC, Rotterdam, The Netherlands worked on one of the most ground-breaking findings that could pave the way for a potential cure for thalassaemia, a serious genetic blood disorder that affects millions worldwide..
Research in #globin gene regulation and control
An initial first study on 6 family members that was later expanded to a family of 29 participants led to the discovery of a novel mutation in the human KLF1 gene - master regulator of erythropoiesis.
The treatment of beta #thalassaemia has been the subject of research for the past 30 years and even more, but research work conducted in Malta, together with active collaborations abroad, sealed a breakthrough discovery that was one of the most major in Malta’s medical history and potentially also on an international level.
The findings were published in Nature Genetics (front cover), a prestigious scientific journal, and placed us at the forefront of human genetic studies and clinical science. I was 28-years old at that time, working full time on my PhD that took three years.