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.
To read the full story as it happened, please click here. To access both of our Nature Genetics articles please click on the publications tab button.
