Lack of clarity amplifies the challenge to come to terms with a disease or disorder. During my research into genetic diseases, I met a Maltese family seeking to understand their condition. Several family members had been diagnosed with hereditary ataxia, a disease that results in some loss of control of normal bodily movements. They had no information about the variation in their DNA that caused the disease.
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Author: Clayton Axiak
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.
Author: Dr Raquel Medialdea-Carrera
When was the last time you heard about the Ebola virus? Many of you may recall Ebola dominating headlines in global news throughout 2014 and 2015 when it spread explosively across West Africa, claiming more than 11,300 lives.
For the last few years, Ebola has been my focus, passion, and dreaded nightmare rolled into one. In 2015, I joined a wonderful team of physicians, nurses, and scientists, that were leading the fight against Ebola in Sierra Leone. We worked in Ebola hospitals isolating patients and supporting survivors of the virus’ worst epidemic in history. Then, the World Health Organization (WHO) declared that the outbreak was over in 2016. News stations stopped covering our progress. Discussions about the disease dwindled. But the fight to eradicate Ebola was far from over.
Since August 2018, an Ebola epidemic has spread across the Democratic Republic of Congo (DRC), affecting over 2,000 people and becoming the second largest epidemic ever recorded. Over the last few weeks, I have joined the WHO to support the fight against it in Africa.
The latest Ebola outbreak in Congo is affecting people who were already suffering from a major humanitarian crisis. People in the DRC are devastated by years of violence and conflict, resulting in the largest displacement emergency in Africa. Four and a half million are currently fleeing their homes. With over 100 different armed groups in the country, the challenge of ending this Ebola outbreak is on a whole new level. But still, there is hope.
Over the last few years, researchers have toiled hard and developed a powerful vaccine against the Ebola virus. This vaccine is still under evaluation, however, the preliminary results show a wonderful efficiency of over 97.5%. Even so, we have to remain aware. Ebola is a cruel, painful death sentence for most people who get infected, and leaves in its wake a trail of broken families, hundreds of orphans, and shattered hospitals. It decimates economies and destroys societies, leading to even more poverty and hardship. This is why we cannot forget about Ebola.
For the first time in Malta, a cardiac screening programme for young people aims to identify who among them are most at risk of sudden cardiac death. Here, Laura Bonnici chats with Dr Mark Abela to learn more about the Beat It project and the impact it is having on young lives across Malta.
There are times in life when death haunts us all. It is most tragic when it strikes down our youth. This year, Italian footballer Davide Astori and Belgian cyclist Michael Goolaerts made headlines after they died unexpectedly. Also making headlines was sudden cardiac death (SCD).
Ischaemic heart disease is the most common cause of cardiac deaths, its likelihood increasing with age. A blockage in one of the arteries supplying the heart starves it of oxygen and nutrients, leading to heart attacks, sometimes resulting in cardiac arrest, in which there is sudden and unexpected loss of electrical heart function. But SCD in young people is very different from cardiac death later in life.
Much like Astori and Goolaerts, SCD victims are generally presumed to be in good health. Early symptoms are often incorrectly attributed to other issues or life changes. The result is a horrendous loss for the sufferer and their family and friends, who also have to weather biological, psychological, and social repercussions. Seeing these events unfold, specialist trainee in Cardiology Dr Mark Abela felt the time was right to offer an SCD screening programme to young people in Malta. He called the project Beat It.
The idea behind Beat It was inspired by the UK-based NGO Cardiac Risk in the Young [CRY], Abela notes. ‘CRY offers screening to young people between 14 and 35 to identify those who might be prone to heart disease. They then give follow-up advice, support, and evaluations accordingly. I realised that a similar programme would be very beneficial to young people here in Malta,’ says Abela.
In Malta, the Beat It project has focused mainly on fifth form students between the ages of 14 and 16. The cardiac screenings attempt to identify those who may be susceptible to SCD, with those prone to it referred to hospital for further tests to catch the condition before it can strike.
‘Because athletes are believed to be at a higher risk for SCD, we need to have routine screening across all sporting disciplines,’ says Abela. ‘Sport has shown the medical community that young individuals who are susceptible to genetic heart disease are still at risk of SCD. Screening helps decrease this burden. Current evidence also supports that this risk is present for non-athletic youths—so why neglect these youngsters?’
Launched officially in October 2017, the Beat It project saw nine doctors, accompanied by a team of technicians and nurses, going into schools and running screenings. Students filled in a simple questionnaire and took an Electrocardiogram (ECG) test on the spot. ‘We analysed the results in the hope of identifying heart disease in the early stages, then advised the young people if they should consider some lifestyle changes,’ says Abela. This included advice ranging from easing up on tennis, to which career choices might be most appropriate for the student based on their health. The team also advised further medical treatment and organised follow-up appointments with specialists Dr Mark Sammut, Dr Tiziana Felice, and Dr Melanie Burg in some instances. In the end, the project screened 2,700 of the 4,300 eligible fifth form students across Maltese schools, all with the support of the school administrators and teachers, who ensured that everything ran smoothly.
The significance of this project could also reach well beyond the lives of the young people themselves. ‘Since the country is so small and families are often inter-connected, genetic diseases in Malta tend to be more prominent,’ Abela emphasised. ‘The discovery of susceptibility to hereditary cardiac disease in any young person therefore also suggests that their parents or siblings may be at risk of SCD. With appropriate testing, the ripple effect of Beat It could preempt problems in entire families, maybe even saving someone’s life in the process.’
The project boosted awareness of cardiac disease and SCD for Maltese young people, their parents, and their teachers. UK data reports that eight out of 10 young deaths do not report symptoms beforehand. There is also a tendency for symptoms to be downplayed by educators who are not aware of potential problems. With this in mind, Beat It will also act as a learning platform. Since young people with cardiac abnormalities are at higher risk for exercise-related symptoms, physical education teachers are now more aware about potential red flags.
Celebrating the completion of the Beat It project, Abela expressed his gratitude for the team who made it possible. ‘The incredible dedication and teamwork of everyone involved has helped Beat It to effect positive change in young people’s lives, potentially saving some in the process.’
Note: The Beat It project is a collaboration between the Cardiology Department at Mater Dei Hospital, the Ministry of Education, the University of Malta, and the Malta Heart Foundation and is supported by corporate sponsors including Cherubino Ltd. through the Research, Innovation and Development Trust (RIDT) and TrioMed.
Author: Laura Bonnici
