Ground-breaking research by Maltese scientists could pave the way for a potential cure for thalassaemia, the serious genetic blood disorder that affects millions worldwide.
The treatment of the disease has been the subject of research for the past 30 years, but it was a Maltese who sealed the breakthrough discovery that would be the most major in Malta’s medical history and also internationally, in terms of the thalassaemia.
The findings and their publication in a prestigious scientific journal have placed the Maltese research group at the forefront of human genetic studies and clinical science.
The man to put his finger on the switch – almost literally – is 28-year-old Joseph Borg, who has been working full time on the study for the past three years.
His paper has landed on the front cover of the leading medical journal Nature Genetics, which only publishes top-quality research in genetics. Anything that goes into the journal is reviewed by three independent experts, an elated Dr Borg pointed out.
Speaking just after his PhD research viva exam at the University of Malta’s Valletta campus, which saw him emerge as Dr Joseph Borg, he said it was “a big event”.
The study, conducted by Dr Borg, builds on that of Prof. Alex Felice, the local pioneer researcher on the subject, and his supervisor and mentor.
In a nutshell, Dr Borg has identified one key molecule, which is responsible for the switch from foetal to adult haemoglobin that occurs at birth. Thalassaemic patients have a genetic problem in adult haemoglobin, which is dysfunctional, and if a way to bring their foetal haemoglobin back to high levels is found, their symptoms can be improved.
The identification of the mutated gene was thanks to the discovery of a unique Maltese family that had high levels of the foetal heamoglobin, but did not suffer from thalassaemia.
The family was identified during routine blood screening at the University’s Laboratory of Molecular Genetics.
“Their levels of foetal haemoglobin, which should be less than one per cent, go up to 20 per cent, proving that one can live with high amounts,” Dr Borg explained.
In their case, the gene switch never occurred, or if it did, it was incomplete. And the aim is, therefore, to inhibit the identified mutation’s function by means of drug compounds. Thalassaemia causes anaemia, which results in pallor, fatigue, weakness, a propensity for other diseases due to immunity and, in severe cases, death.
Some patients need blood transfusions every six weeks, a cumbersome treatment, which often causes other complications.
About 28 Maltese suffer from the severe hereditary condition, and millions are inflicted worldwide and especially in areas in Africa and East Asia.
“We are not far away from model testing and are already equipped to carry it out. Experimental trials to validate the finding have also started, and the process is moving fast. Possibly, in a few years’ time, we could have a medicine that would inhibit the gene from working, resulting in no switch to the dysfunctional adult haemoglobin.”
The result would, hopefully, be to get patients transfusion independent, Dr Borg said.
During the research period, he spent time in Rotterdam, using the resources of a Dutch professor who took an interest in his study and offered the use of his lab and dedicated equipment in a successful collaboration.
Thanks to funding from the Malta Government Scholarship Scheme and a European Molecular Biology Education grant, he could carry out the research overseas.
“We are in the phase of actively pursuing strong overseas collaborations in our goal to treat hereditary anaemias, which now appears closer than previously thought,” he said.
Dr Borg intends to continue pursuing similar studies on blood and genetics with Prof. Felice and his team.
“More is yet to be discovered because of the structure and nature of the Maltese population. You can find specific and unique mutations and conditions, and these must not be overlooked,” Dr Borg said.
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