Skip to content

Keep Calm and Factor This

Facebook
Twitter
LinkedIn

Author: Malcolm Pace

People suffering from haemophilia, an inherited disorder, will bleed for much longer after an injury, bruise easily, and risk internal bleeding in joints or brain. This is a widely studied condition with unique variations in the disorder to Malta. While pursuing an M.Sc. in Applied Biomedical Science, I have profiled and found the contributing genes in all Maltese patients and compared them to patients abroad.

The genes that code for important clotting factors in blood are located on human sex chromosome X. This means that a woman will be ill only if she receives it from both parents, explaining the much higher manifestations of the disorder among men (men only inherit one X chromosome). In Malta, both factor deficiencies are rare: around 30 to 40 patients by either Haemophilia A or B. There are two types of the disease (factor VIII and IX), and their DNA variations are known and documented. But this study uniquely mapped both types of haemophilia.

Malcolm Pace
Malcolm Pace

My research (supervised by consultant haematologist Prof. Alex Gatt, and molecular geneticist Prof. Joseph Borg) in haemophilia needed an interdisciplinary effort. There are currently over 1,300 unique DNA variants listed in what’s called the Factor VIII database, and 1,095 unique DNA variants in the Factor IX gene – both are stored by the University College London for scientists and health care professionals to study to develop new cures. 

I performed extensive DNA sequencing not just for this study but for future studies on more patients to find out if some carry a rare disease without being aware of it. Patients worldwide are starting to have their DNA analysed by Next Generation Sequencing, a cheaper, faster way to read large amounts of DNA. However, the practice is not routine. Once it is, it can greatly improve patient management. If we continue testing these methods in the lab, medical practitioners will eventually be able to identify more individuals at risk of being carriers and refer them to a genetic counsellor to discuss the risks.  

The study was supported by the Endeavour Scholarship Scheme from the Ministry for Education and Employment. I would like to thank the Molecular Diagnostics team led by Dr Graziella Zahra (Mater Dei Hospital) for use of Next Generation Sequencing tools.

Author

More to Explore

Smooth Operator: Improving Surface Finish in Additive Manufacturing

While the advent of 3D metal printing may redefine how designers develop parts for products, the process itself is not without faults. Andre Giordimaina speaks with THINK about the GLAM Project, which aims to improve the process of 3D metal printing by optimising the finish and performance of designed parts.

Beyond What Drifts Us Apart

Beyond What Drifts Us Apart is a long-term art project conceptualised and curated by the acclaimed Maltese curator, Elyse Tonna. The 2024 edition took place in and around Gozo’s Dwejra Tower, which proved to be an abundant source of inspiration for this year’s selection of international and interdisciplinary artists. The exhibit was open to the public for a week through a variety of workshops and performances.

Finding a Home in Malta

Getting on the property ladder is incredibly difficult. Unless you are fortunate enough that your parents already own several properties, you will most likely be stuck for the rest of your adult life paying off your first (and possibly only) one-bedroom apartment. Is this grim future set in stone, or are there more creative solutions?

Comments are closed for this article!