Championing Research Excellence: The HRS4R Journey at the University of Malta

The HR Strategy for Researchers (HRS4R) is an ongoing project aimed at improving the working conditions and recruitment processes for researchers, including resident academics and Research Support Officers (RSOs). THINK recently interviewed Dr Karen Cacciattolo to walk us through the work conducted by the HRS4R committee at the University of Malta (UM), the significance of this project, past actions taken, and upcoming plans.

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Our editor-in-chief’s favourite THINK stories of all time!

The festive season is a time for family, friendship, and remembrance. Over the last nine years, I’ve seen THINK magazine being born, grow up, and mature. First as its life giver, then as its pilot, my job has been to make sure the ship doesn’t stray too far off course while allowing the excellent editors Cassi Camilleri, Daiva Repečkaitė, and David Mizzi to bring their own flavours and thoughts to the magazine. 

The journey has been long — full of hurdles and rewards. Some academics did not agree with the approach: ‘THINK turns researchers into superstars,’ blurted one researcher, making that seem like an awful thing. Other researchers couldn’t understand why we wanted to talk about their failures. Experiments don’t always work, and we wanted to show the passion researchers need in order to contribute to human knowledge through publications. Meanwhile, other people loved how much time we dedicated to design and how easy the magazine was to read, proud that the University of Malta could produce such a high quality publication on a shoe-string budget.

The year’s end has made me reflect on all the stories we have covered, from articles that affected every Maltese resident to research stories that rewrote Maltese history. It has been a great ride. Below are some of my favourites. I hope you enjoy reading them as much as I enjoyed working on them with the excellent THINK team.

Stories that bring to light vital issues

Research sometimes brings shocking things to light. Imagine If one-third of the world’s shipping traffic passed by your door, and every ship burnt heavy fuel oil equivalent to a medium-sized power station. Prof. Ray Ellul and his team discovered that these fumes were causing pollution peaks in Malta, which also has high levels of asthma and other respiratory diseases. 

Writing about this story showed me how important it was that THINK’s dedicated team was trying to find out what research was happening in Malta. We were the first to write about this research. Our story was picked up by issuu.com, gaining over a million hits through their platform. The story hit a nerve both in Malta and abroad.

Malta’s pollution problem is partly due to shipping, but also stems from traffic: fossil-fuel burning vehicles are Malta’s largest contributor. To this day, neither has been addressed. Lung conditions are still rampant.

We followed up the story in 2017 and again in 2020.

Imagine If one-third of the world’s shipping traffic passed by your door, and every ship burnt heavy fuel oil equivalent to a medium-sized power station.

Re-writing history

Other research shows how history tells many stories. History is not made up of one narrative but of many competing ones. The final story is written by the victor. Back in 1798, Malta was invaded by the French, but recent research by Dr Charles Xuereb adds nuance to the story Maltese children have been taught in school. The story was that the French were hated, stole all our silver, and treated the Maltese very badly. Xuereb found out that many Maltese people and the then-rulers, the Order of the Knights of St John (many of whom were French), had practically invited the French to Malta. Napoleon tried to bring his values of free education and health to Malta, but that didn’t last long as it upset the merchant class and church — two powerful forces that didn’t benefit from Napoleonic rule.

But this isn’t what surprised me the most from Xuereb’s research. Around 10,000 Maltese people died in the ensuing two-year siege by the Maltese people in rural Malta supported by the British, against those locked up in the Three Cities and the Valletta/Floriana area bolstered by the French. What’s shocking is that this event is not remembered in our history books or monuments. The British rulers who came after the French didn’t want the Maltese people to think they could overthrow a colonial power, so they emphasised the British help and reduced the role of Maltese residents in this bloody two-year war. 

For more, do read MALTA | Stockholm Syndrome: or why we love the British. If you’d like to read about other rewrites of Maltese history, see 1565 – Was it that great?

‘Lil din l-art ħelwa’ – Jean Claude Vancell

Stories that touch people’s hearts

Research changes lives. Dementia affects over 6,000 people in Malta. Cassi Camilleri wrote I’m sorry I forgot: Is dementia Malta’s next national crisis? Her story interwove Malta’s National Dementia Strategy publication with the sad story of Briton Geoffrey Morgan, who went missing and died because of his condition. His family opened up about their experience, showing just how important it is to invest in research on how to treat dementia, but also how to care for patients and their carers and families, who are normally overlooked. 

A few years later dementia treatment in Malta received another boost: dance. The Step Up For Parkinson’s Voluntary Organisation started working with dementia patients and carers in Malta. THINK worked with them to produce Dancing with Parkinson’s: A short documentary and an article by Dawn Giles about the lives of people changed by this movement. Research by the organisation’s founder Nathalie Muschamp showed the impact the organisation’s work has on people’s lives. We recently followed up on this story in Caring for Carers, where we take a look at these unsung heroes.

Dementia affects over 6,000 people in Malta

Tackling the problem of gender

THINK hasn’t shied away from difficult issues. Our March 2020 issue focused on gender boundaries. THINK investigated how women are still held back in journalism, medical research, STEM careers, and even climate change. The issues are both Maltese and present the world over. I really loved how we celebrated the women who made it despite the glass ceilings. Read Making it in a male-dominated world to learn more about the three researchers we covered. 

One article that is close to my heart is on the need to normalise the issue of gender. Rather than simply shrugging off the problem, the issue needs to be tackled head on. Dr Brenda Murphy spoke about Mainstream gender = mainstream funding. By focusing on gender and including more LGBTIQ+ community members in research, research quality will improve. I have spent tens of hours writing research grants to try and make this happen in Malta — the search goes on.

By focusing on gender and including more LGBTIQ+ community members in research, research quality will improve

THINK has been an incredible life journey for me. Creating a magazine that speaks about Maltese research has been a dream come true. I had the idea while I was still living in Edinburgh, but the concept was a shared one, and many others pushed to start such a publication in Malta. That it is still going strong, with plans to make it even stronger under the helm of Editor David Mizzi, is the best Christmas present I could have received. 

I want Maltese research to be known locally and worldwide. I want locals and politicians to talk to researchers and to make the best decisions for the country by balancing facts with public need. These wishes sound like pipe dreams, but let’s hope Santa is listening.

I <3 potato

Vegetables
Plant-based diets are going mainstream all over the world. Cassi Camilleri sheds light on the local vegan movement and how reducing our meat consumption can benefit us all.

Some label the rise of plant-based living as evidence of ‘trend culture’. And they’re not all wrong. Traditional media bombards us with countless headlines on the topic’s pros and cons. Hard-hitting advocacy films like Cowspiracy and Forks over Knives expose the horrors of the meat industry. Social media influencers share their experiences with the diet, turning it into lifestyle content. And now the market is following suit with vegan and veggie lines and options popping up everywhere.

In 2016, an Ipsos MORI survey for the Vegan Society identified that 3.25% of adults in the UK never eat meat in any form as part of their diet, equating to roughly 540,000 people. Vegan January—commonly known as Veganuary—is growing in popularity. This year, a record-breaking 250,310 people from 190 countries registered for the month-long vegan pledge. And Malta is no exception.  

While the official number of people following a plant-based or vegan diet are unavailable, interest is clear. Facebook pages Vegan Malta and Vegan Malta Eats have a combined following of over 16,500 people. 

The reasons behind people’s decision to take up veganism are various, however three main motivators keep being cited: health benefits, ethics, and environmental concerns. For vegan business woman Rebecca Camilleri the process was natural and gradual. ‘There was no real intention behind it for me. But after a couple of months of following this diet, I noticed that my energy levels were better than before, and this encouraged me to learn more on how I needed to eat in order to nourish my body with the right nutrients to sustain my active lifestyle.’  

Researcher and nutritionist Prof. Suzanne Piscopo (Department of Health, Physical Education, and Consumer Studies, University of Malta) confirms that ‘moving towards a primarily plant-based diet is recommended by organisations such as the World Health Organization and the World Cancer Research Fund, for health and climate change reasons.’

Oxford academic Dr Marco Springmann has attempted to model what a vegan planet would look like, and the results are staggering. According to his calculations, should the world’s population switch to a vegan diet by the year 2050, the global economy would save $1.1 trillion in healthcare costs. We would also save $0.5 trillion in environmental costs, all while slashing greenhouse gas emissions by two-thirds. 

Despite all this, veganism has earned itself quite a few enemies along the way. The vitriol thrown back and forth across both camps is shocking. Relatively recently, UK supermarket chain Waitrose came under scrutiny after magazine editor William Sitwell responded to plant-based food article ideas from writer Selene Nelson with a dark counter offer—a series on ‘killing vegans’. Sitwell was since forced to resign. Nelson posited that the hostility stems from ‘a refusal to recognise the suffering of animals. Mocking vegans is easier than listening to them.’

Abigail Higgins from American news and opinion website Vox agrees that guilt plays a role in the hatred aimed towards veganism, but also proposes that the whole movement ‘represents a threat to the status quo, and cultural changes make people anxious.’ This notion is based on research on intergroup threats and attitudes by US researchers Walter G. Stephan and Cookie White Stephan. 

It however remains a reality that some of the loudest voices in veganism in the past have been militant. Some have invoked hatred and threats towards those that they perceive not to be sufficiently aggressive in promoting the cause. Piscopo calls for a respectful discussion.

‘Food is not only about sustenance and pleasure, but has symbolic, emotional, and identity value. Take meat for example. Some associate it with masculinity and virility. Others link it to food security as meat was a food which was scarce during their childhood. Some others equate it with conviviality as meat dishes are often consumed during happy family occasions. What is important is that we do not try to impose our beliefs, thoughts, and lifestyle on anyone.’

The way forward is a ‘live and let live’ approach, according to Rebecca Galea. When her journey started she had people ‘staring strangely at [her] food’. Even her family didn’t take her seriously. ‘They were very sceptical as their knowledge on veganism was very limited at the time,’ she remembers. Now, seeing the effect the switch has made to Rebecca’s life, her positive choices are naturally impacting theirs. ‘Everyone is free to make their choice,’ she says. Embodying the philosophy of leading by example, Rebecca has even set up her own business making delicious vegan nut butters, spreads, and more, to great success. ‘The more vegan options are available [in Malta], the more people will be attracted to learning and accepting the benefits of veganism. This might also lead to them following a vegan lifestyle!’

With that, and sharing valid, up-to-date research-based information, as Piscopo suggests, it seems there is no stopping this ‘trend’. And who would want to when veganism can lead to a lower carbon footprint and better health for everyone? 

Putting patients first

Patient
Most cancer treatments involve complex surgeries, toxic drugs, or taxing radiation, but there are other answers to this devastating disease. Prof. Pierre Schembri-Wismayer is developing a vaccine that works by harnessing our body’s own immune response and directing it towards the threat, fighting the disease as an inside job. Words by Gail Sant. 

Prof. Pierre Schembri-Wismayer

Our bodies produce billions of cells every day. With such industrial production rates, it’s entirely likely that a mistake or two are made along the way. Cancer cells are those mistakes—faulty mutants. 

Humans are also equipped with mechanisms that allow them to recognise cancer cells and get rid of them, but there can be trouble when distinguishing ‘bad’ from ‘good’. Part and parcel of cancer is that it compromises the immune system to ‘escape’ our ‘guards’. This precious time during which the body fails to recognise the mutants is the golden opportunity for cancer cells to multiply and thrive. And as the cancer grows, so do the problems that come with it.

Despite the varied types of cancers in existence, treatment usually entails surgery and chemotherapy. But the risks and side-effects that come with them are heart-wrenching. 

But what if a vaccine can stop cancer in its tracks? Prof. Pierre Schembri-Wismayer and his team are working on a type of immunotherapy that enables the body to recognise the invading cancer sooner, directing the attack as a result.

How it works

Vaccines work by triggering an immune response in the body. These cancer vaccines developed by Schembri-Wismayer work the same way. He collects a piece of the cancerous tumour and denatures (a process not unlike cooking or boiling) it in formalin, which modifies its shape, making it easier for the body to recognise as a foreign body. The body can then remove it.

Our bodies have a naturally low tolerance when it comes to foreign entities, so when a vaccine injects the cooked tumour, the body recognises it and ambushes both the injected and the original cancer present in the patient, ‘engendering a stronger immune response’.

Inspired by a Japanese research paper, yet baffled by its lack of recognition, Schembri Wismayer modified the method outlined there and created his own version of the vaccine to accommodate his first patients: a pair of pet rats.

The founding pets

Schembri-Wismayer had the perfect opportunity to test the potential cancer treatment when a student’s pet rats fell ill. Their owner mistakenly overfed the rats to such an extent that they became obese. ‘The rats became square-shaped,’ Schembri-Wismayer notes. With the increase in body fat, their oestrogen rose too—a female sex hormone that increases the risk of breast cancer. As a result, both rats developed the disease, and even showed metastasis in both underarms, which also happens in humans. Obesity is linked to cancer in many animals.

Within days, Schembri-Wismayer took samples from the rats and produced a tailor-made vaccine for each rat. Two weeks after their treatment, the rats’ owner informed him that they were in a lot of pain. ‘But tumours don’t hurt,’ Schembri-Wismayer explains.

An operation on the rats revealed that the tumours had broken down (were full of dead cells). This confirmed that the rats’ pain was actually stemming from the inflammation caused by the vaccine itself.

Physical anguish aside, this was a good sign, an indication that the body was fighting back. In the end, the tumours burst, necrosed, and died. The rats beat the cancer, and thus a new research project found its beginnings.

Pre-treatment (left) and post-treatment (right). The rat’s breast cancer had already metastasised and spread. After the vaccine, the tumours burst, necroses and died. (Low power and high power views respectively).

Hurdles ahead

Having had such promising results, and with ethical approval from the local Animal Welfare Council as a therapeutic option, Schembri-Wismayer turned his attention to a group of animals which would benefit a lot from such vaccines—people’s pets.

‘In many cases, once a dog or a cat gets cancer, there’s not much you can do if it spreads,’ says Schembri-Wismayer. His vaccines can offer new hope to pet owners when cancer strikes and the only option is to put them down. And so it has.

With consent from owners and vets, Schembri-Wismayer offered the therapy to cats and dogs of different breeds. The types of cancer varied, as were their progressions, and so the results were just as jumbled. The treatment was successful for some, but not all. Considering this treatment is still in its early days, an element of trial-and-error puts some animals at a disadvantage, particularly those who are very ill when the disease is in its last stages. It should also be mentioned that this research project was held back by challenging communication difficulties between everyone involved. ‘Different priorities made the process more difficult than it had to be,’ Schembri-Wismayer notes. The ideal scenario would see him and the veterinarian working hand-in-hand to follow up on the animals and their response to the treatment using blood tests and ultrasound.

That said, the potential of the treatment isn’t limited to individual successes. Each pet-patient contributed to a better understanding of the treatment, especially when owners were immensely helpful and allowed the veterinary surgeon to provide the team with a piece of the tumour after treatment (even if the pet was put down). With that in mind, the prospects of this type of immunotherapy are promising to say the least.

Moving onto human trials

While the vaccine’s promising results might be a step in the right direction, the cure for cancer doesn’t seem to be in the near future. The ongoing animal treatments are providing useful information, but the move to human trials is gruelling. Testing out new therapies comes with storey-high hurdles, including financial ones, that need to be overcome.

The reality is that this kind of therapy would work best as a first response (or after debulking surgery). Because the more widespread the cancer, the bigger the immune response the vaccines create. And ‘if a reaction is strong enough, it might be enough to kill the patient,’ Schembri-Wismayer explains. But medicine works with a set of rules and best practices. Doctors are obliged to try what’s known to work first before moving onto lesser-known experimental drugs. This fact is a challenge. Despite the hurdle, Schembri-Wismayer is certain that people would eventually volunteer to be involved in clinical trials, as happened with HIV/AIDS treatments. ‘Unfortunately in end-stage cancer you have no other options.’

Vaccines for human use need to be produced in Good Medical Practice (GMP) facilities, cites Schembri-Wismayer. However, there are no such facilities locally. After a long search, he has finally found an industry partner that has agreed to create the vaccines in Belgium, against a price, as long as he sets up the clinical trials. This little victory comes with its own set of problems. In this case, the new limiting factor is mainly funding. Clinical trials typically cost millions.

The politics of Cancer

Logistics aside, the hunt for a cure faces problems even more complex than what already seems immensely problematic. Schembri-Wismayer explained that there’s a major systematic flaw.

‘Many cancer researchers are not doctors. Their career depends on peer-reviewed publications and not finding a cure.’ This means that as long as their findings are statistically significant or are ‘good enough’ to be published in a high-end scientific journal, their job is done.

Granted, no research finding can be seen as wasted knowledge. Each can be seen as a small step forward. However, Schembri-Wismayer believes that the millions of funds designated to cancer research should have more rapid deliverables that directly benefit the patients, not just academic careers. Unfortunately, the cancer research community is a circular one, where scientists review other scientists mainly based on publications to get further funding.

‘I am not trying to publish in Nature [the world’s top academic publication], I’m trying to cure cancer’, says Schembri-Wismayer as he confesses that he feels guilty about not letting his students publish papers. But this is a necessary evil in the journey towards therapies. ‘Once a method is published, no company will touch it because it’s in the public domain.’ The method would have no monetary value since anyone could copy it. Needless to say, no pharmaceutical company will industrialise a drug that doesn’t guarantee profit.

Speaking of profit, Schembri Wismayer expressed that the financial aspect of this study is one of his greatest motivations. ‘Most of these drugs cost the Earth’, he said, adding that ‘when each shot costs €30,000 and the success rates are low, very few National Health Care systems are going to provide it.’ Take Yervoy, a drug commonly used to treat melanoma; one dose can cost up to €4,000. Survival rates after treatment are low. And there are no ‘money-back-guarantees’ if the outcome is less than satisfactory. As a result, studies have shown that a quarter of cancer patients in the US choose not to take such prescriptions because of such high prices. Money shouldn’t be the limiting factor in the fight for survival. Schembri-Wismayer believes in cancer treatment that’s affordable for everyone.

Fighting the good fight

Even in the face of all these odds, Schembri-Wismayer persists. A cancer patient isn’t just a number; a cancer patient is also a mother, a brother, or a friend. And knowing this is enough to help him and thousands of other cancer researchers to continue pushing through.

One in two people in the UK will be diagnosed with cancer during their lives. It is a harsh reality, but humankind will eventually find a cure just as it has with other previously deadly diseases such as influenza or measles. This vaccine is in its early stages but with the proper support, it may contribute to an affordable, life-saving cure.  

I am online

Online
We’re always warned about what personal details we share on social media. But what does the language people use on platforms like Facebook and Twitter tell us about their wellbeing? Words by Dr Olga Bogolyubova.

Dr Olga Bogolyubova

Today being an Internet user means being a social media user. The two have become synonymous. 

According to the Global Web Index report, there are now over three billion people worldwide using at least one social networking site. The average Internet user has eight social media accounts and is active on at least three platforms. In our contemporary world, most of us spend a significant chunk of our lives online.  

This is a modern reality: we access information online, purchase goods and services online, search for jobs online, follow professional interests online, schedule events online, invest in relationships online (some of them purely virtual), and then spend the remaining idle time browsing through our news feeds.

Humans are social creatures, and like other big apes we care about hierarchies and group status. This is reflected in our behaviour on social media, where we actively engage in impression management. We select aspects of our lives to present online in the hopes that they will bring us more benefits, while editing out other parts that could cause negative consequences.

We want to look happy, popular, rich, and successful, or if that doesn’t work, at least try to come across as dramatic or alluring. But in a world where the line between reality and the digital world continues to blur, can we really separate our real-life characteristics from our online persona? Can we effectively hide aspects of our offline identity when online? Are we as good at concealing our true selves as we think we are?

Going deep

A few years back, Dr Michal Kosinski and his team set out to find answers to the above questions. They sought to determine if it would be possible to predict individual characteristics (such as age, gender, sexual orientation, and so on) and personality traits from Facebook Likes. 

Over 58,000 people volunteered to take part in the study and provided their Facebook Likes, demographic data, and answers to a set of psychometric measures.

Ethnic origin and gender were predicted from Likes with the highest level of accuracy (95% and 93%, respectively). Prediction of religion, political preferences, and sexual orientation was also good, with 75% to 85% accuracy. However, predicting personality traits turned out to be somewhat more difficult. 

In psychology, personality traits are described as characteristic patterns of thoughts, feelings, and behaviours and, by definition, these are latent variables, meaning that they are not directly observable but derived from answers to a set of questions. Even so, Kosinski’s research team did manage to demonstrate significant connections between the study participants’ personality traits and their Facebook Likes, with the trait of Openness showing the best predictive potential. 

The study has attracted a lot of attention. Other researchers have since been attempting to predict individual characteristics from various features of social media profiles. At first glance, some of the findings may look strange or even absurd. For instance, in one of the studies aimed at predicting personality traits from profile pictures, it was found that extroverted people are less likely to have profile pictures with nostrils showing. Sounds ridiculous… but it actually makes sense if you think about it. By definition, extroverted individuals are more likely to be mindful of other people’s perceptions of them, more likely to see themselves from another’s point of view. As a result, they’ll post better selfies and profile pictures when compared to introverts, who are more likely to upload casual snapshots as profile pictures.

This observation shows that we are unable to control the little details of our behavior. There as so many minute variables involved that it is impossible for us to keep track of them all. A lot of non-vital and therefore ‘unnecessary’ information slips through, yet it reveals a lot about us. This is also found in language. While we usually have no trouble controlling what we say, it is much harder to control how we speak. The topics of our conversations with friends and strangers are firmly under our control, but our use of pronouns and articles in everyday conversations is not. The style of our language is invisible to us.

Honing in on the invisible

James Pennebaker, Professor of Psychology at the University of Texas, USA, was among the first behavioural scientists to propose computational approaches for the study of these invisible, functional components of language.

Pennebaker’s research demonstrated that it is these ‘stealth’ elements that connect deeply with our psychological makeup and state of mind. His ideas provided a starting point for a lot of current social media-based research. After all, our online presence is still largely text-based and rooted in language, and it is only natural that a lot of social media research is based on linguistic analysis.

Many studies are exploring predictors of how online language is being used. For instance, in a recent Facebook-based study, conducted in collaboration with my colleagues from St. Petersburg State University, Russia, we explored connections between subjective wellbeing (i.e. level of satisfaction with one’s life and positive emotionality) and language used in wall posts.

We were able to show that individuals with lower levels of subjective wellbeing are more likely to use ‘should statements’ in their language. In psychotherapy there is a long-standing tradition to regard ‘should statements’ as a type of irrational thinking associated with distress and mental health problems. It is interesting that we were able to demonstrate the relevance of these classic, pre-Internet theories to the contemporary world.

Identifying markers of mental health problems in online language is another important strand of research. Anxiety and mood disorders are the most common mental health conditions, responsible for a significant burden worldwide. They are also treatable, so early identification is vitally important, and social media may provide a platform for screening, psychoeducation, and connection to treatment (including affordable digital interventions). Research can change these citizens’ lives.

Social media-based research on mental health disorders has consistently found an increased use of first person pronouns (I, me) by people with depression. The finding reflects the painful self-centeredness of the mind in mental illness. Some other findings include observations on language use in post traumatic stress disorder, seasonal affective disorder, and obsessive compulsive disorder, as well as on identification of suicide risk.

Social media can be risky, but is it the monster we are seeing splattered all over mainstream media? Research can help build systems that bring mental health interventions to low resource regions, and it can aid in identification of suicide risk and risk of violence. Ultimately, it can promote healthy living and save lives. 

Living with a rare disease

DNA

Author: Clayton Axiak

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.