by Marika Azzopardi

He was turning nine when the discovery of the DNA drew attention world-wide. It was the scientific discovery of the century and it would influence him definitely towards his future career choice. Alex Felice was the son of a chemist but perhaps, had the wonder of DNA not impressed him so much, he would not have taken such a strong interest in his father’s profession. As things turned out, the mysteries of biochemistry had him enthralled enough to encourage him to take up medicine at University.

Professor Alex Felice is today an appreciated specialist and researcher in the field of genetics. He is known for his intensive work in the research on thalassaemia and in his research on the haemoglobin variants present in the Maltese population. He explains how all this came about, “I graduated M.D. in 1971 and during my first years at St. Luke’s, I took every possible opportunity to head for the labs and work there – I preferred lab work to ward rounds any day. My mentor was the late Joe Louis Grech, the clinical pathologist at the time.  When the opportunity arose to become a research fellow in William Bannister’s new department, I took it on with gladness and did my Masters research on the genetics of haemoglobin and thalassaemia.”

He eventually moved on from Malta, taking up a research position in the Sickle Cell Centre of Titus Huisman in the Medical College of Georgia, Augusta  Georgia, US. At the time, it was one of two leading centres for research on haemoglobin genetics. The other was at Oxford University, run by David Weatheral. Alex gained his Ph.D in 1981 and then took on posts at the Medical Research Service of the Veterans’ Administration Medical Centre as ‘Principal Investigator for Haemoglobin Research’ and the Faculty of the Medical College of Georgia in the School of Medicine and the School of Graduate Studies, becoming Associate Professor in 1985.

Eventually he returned to Malta and resumed work here opening a clinic and a laboratory, starting a research programme and introducing studies at Masters and Doctoral levels for University students. Today his professorship has led him to continue studying the Maltese scenario and continue working with the small but dedicated team of young scientists who have trained under his guidance.  “The small group of trainees who started out with me when I resumed work here, has today developed and evolved so that each has achieved great accomplishments. Christian Scerri is Professor and heads the Section of Genetics at Mater Dei Hospital and Connie Bezzina is Professor of Molecular Cardio-Genetics at the Academic Medical Center in Amsterdam, The Netherlands. John Rizzo Naudi and Peter Seracino Inglott were very supportive. Currently, we have three Masters students and two PhD students researching with us. This research is of utmost importance. Our key interest lies in the mechanisms that regulate gene expression in health and disease. It is at the tender age of approximately six months that infants complete the genetic switch from foetal haemoglobin to adult haemoglobin. Thalassaemia manifests itself at this switch-over phase. We have identified the KLF1 gene that in our opinion is the master regulator of switching. We now know that in the rare eventuality that the switch-over does not materialise in infants pre-disposed to develop thalassaemia due to their genetic make-up, thalassaemia does not manifest at all. This discovery is of utmost importance and we are seeking to find ways of controlling this switch-over phase. Joseph Borg earned his Ph.D. for this work and he is now a lecturer in our new Faculty of Health Sciences. We are collaborating with the research group led by Sjak Phillipsen at the Erasmus Medical Center in Rotterdam, The Netherlands to search for the medication to help control the switch-over” This work has resulted in the publication of nearly 70 research manuscripts, most of which in leading journals.

Another interesting aspect of his work is bio-banking. A collection of specimens has already been organised in Malta as part of a much larger research infrastructure which is being set up across Europe, namely, the Biobanking & Biomolecular Resources Research Infrastructure. This bank is seeking to achieve global inter-operability which will be very valuable  for patients and families with hereditary diseases that fall within the class of orphan diseases.  His group at the University of Malta is also a founder member of Euro BioBank and the research consortium on rare disease known as RD-CONNECT.

But what about Malta? How does Malta’s genetic pool fare? “The novelty is that many babies seen today carry African and Asiatic traits in their genes. Whether migration is legal or illegal, it happens and it affects the genes our children carry. However, we have averaged the Maltese genome and know for certain that as expected,  95% of our genes come from Sicily and Southern Italy.   The historical and archeological records are consistent with this finding. We also find quite a few genetic abnormalities that appear to be unique to the Maltese.”

Professor Felice speaks with excitement about a new project which is in progress, and which will turn into a public information exercise. “In the near future we are planning to invite the public to participate and help us research our national gene pool further. This will be of immense help to our future generations and their health. I am already excited by the possibilities it will bring forth, and hope that the public will be forthcoming.”