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.
Picture yourself waking up one morning with a severe, relentless itch that no clinician or diagnostic tool can understand. Your life would be thrown off kilter. Quality of life would suffer financially, psychologically, and socially as you try to look for a glimmer of light at the end of the tunnel. This is what life is like for most people living with a rare disease.
Often barraged with terms like ‘unknown’ or ‘undiagnosed’, matters can get even more challenging when the condition becomes more elusive or develops life-threatening consequences. And all of this is exacerbated by inequities in treatment and high costs of the few existing drugs that are available.
By EU standards, a rare disease is one that affects fewer than one in 2,000 individuals. And these ‘less common’ ailments are difficult to raise monies for to research, leaving large gaps in scientific and medical literature. One such disease is the poorly understood Idiopathic Hypogonadotropic Hypogonadism (IHH).
Characterised by the absence of puberty and infertility, IHH can be compounded by potentially severe characteristics such as congenital heart disease, osteoporosis at a young age, and early onset of Alzheimer’s disease.
Its cause is usually a genetic anomaly, but a single genetic change can affect two people very differently. This gives rise to an unparalleled complexity that makes the cause harder to decipher. Symptoms are not clear-cut and sometimes mask the actual underlying cause, bringing about misdiagnosis and delayed treatment. Timely diagnosis is crucial for successful treatment that enables the patient to achieve puberty and induce fertility. But this is not always possible.
Under the guidance of Dr Rosienne Farrugia, I am currently analysing and expanding upon a preliminary assessment of IHH in Malta using high-throughput sequencing (HTS) technology (conducted by Adrian Pleven). With HTS, we can read a person’s entire DNA sequence and attempt to identify differences in the DNA code which lead to such diseases.
What the team has found is that some genetic variants typical of IHH are more common in the Maltese population when compared to mainland Europe and African populations. This is likely due to the reduced genetic variation of our population, shaped by successive events of population reduction and expansion throughout our history.
By mapping the genetic cause of diseases prevalent on our islands, we can help medical consultants to employ specific screening tests that are tailored for local patients suffering from IHH. Such advancements in genomic technology and personalised medicine can make a huge impact on people’s lives. And not only to those suffering from IHH; researching one disease, however rare it may be, can shed light on mechanisms that prove useful in treating many others, ensuring that when it comes to health, no one is left behind.
This research project is being carried out as part of a Ph.D. program in Applied Biomedical Sciences at the Faculty of Health Sciences.
A staggering amount of diseases can be traced back to a genetic cause. Dr Rosienne Farrugia talks to THINK about her team’s efforts to use genome sequencing to eventually secure timely treatment for some very serious conditions.
DNA is what life is made of. Found in every cell of the human body, it has sent criminals to jail and been the focus of controversial court cases. Dr Jean Buttigieg discusses these legal and ethical issues. DNA has also transformed the meaning of being human, with traits from disease to intelligence all linked to it. DNA is changing the world.
Over the course of nine months, an entire human body is sculpted from a few cells into a baby. The blueprint is the information written into our DNA. But what happens if there is a mistake in these blueprints? Decades worth of research carried out in Malta and abroad have aimed to understand how these errors lead to a disease common in Malta and prevalent worldwide. Scott Wilcockson talks to Dr Joseph Borg (Faculty of Health Sciences, University of Malta) to find out more.
By reading someone’s DNA one can tell how likely they are to develop a disease or whether they are related to the person sitting next to them. By reading a nation’s DNA one can understand why a population is more likely to develop a disease or how a population came to exist. Scott Wilcockson talks to Prof. Alex Felice, Dr Joseph Borg, and Clint Mizzi (University of Malta) about their latest project that aims to sequence the Maltese genome and what it might reveal about the origins and health of the Maltese people.
Every person possesses the same genes within every cell. Their DNA provides the information to first create an entire functioning body and then keep it running. While all humans share more than 99.9% of their DNA, it is the subtle differences in our DNA that ensure individuality. Many differences are superficial effects, like hair colour, but some can have disastrous health effects. Scott Wilcockson talks to Dr Stephanie Bezzina-Wettinger (Faculty of Health Sciences, University of Malta) about her research on these subtle differences and how they can contribute to heart attacks.