Month: October 2015

The Quest to Quantify Diabetes

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What is the link between the Maltese lifestyle and diabetes type 2? And how will figuring this out help health professionals and the general public? Here, Dr SARAH CUSCHIERI MD explains the thought-process and the implications of The University of Malta’s Health and Wellbeing Study, SAĦĦTEK.

Sarah CushchieriIn 1981 a diabetes mellitus type 2 prevalence study was conducted; its findings are still used to predict the diabetes burden on Malta’s healthcare system today.

But life and lifestyle in Malta have changed greatly since then – and, with more of us eating a westernised diet (as opposed to the more-Mediterranean oriented one back then), and fewer of us exercising, among other factors, that study has now become almost obsolete.

And that’s where SAĦĦTEK comes in.

Over the years ‘it is expected that the diabetes and obesity frequencies in Malta have increased,’ reads the project’s official document. ‘The increase in diabetes also comes from the strong family history of diabetes mellitus type 2 in Malta.’

‘[Moreover], there has never been a representative survey covering the prevalence of obesity, hypertension, physical activity, smoking and alcohol consumption in Malta [and], therefore, the burden of this disease has been based on estimations.’

Now, the University of Malta’s Health and Wellbeing Study, SAĦĦTEK, is looking to rectify the situation and Dr Sarah Cuschieri MD, with the help of Dr Julian Mamo, the Head of the Department of Public Health, is at the helm of this ambitious project.

“When we first started, my assumptions were that we would find a small percentage of the population that was diabetic,” explains Dr Cuschieri, an assistant lecturer at the Department of Anatomy within the Faculty of Medicine and Surgery. “The actual preliminary results, however, have shown that a large percentage of the sample population is diabetic (newly diagnosed, as well as already-known), and that the majority of them are either overweight or obese, too.”diabetes-treatment-abroad

Dr Cuschieri’s role in this project is manifold, and ranges from taking care of the logistics, all the way to calling participants with abnormal results. And the results – good or bad – are what makes this project such a valuable one.

“The results have many factors that need to be analysed and compiled, which include an update of the prevalence of type 2 diabetes among adults and the prevalence of pre-diabetes (those prone to becoming diabetic), obesity, hypertension, physical activity, smoking and alcohol consumption, among others,” she says.

“We also assess the risk factors affecting the Maltese population that are contributing to the development of type 2 diabetes, pre-diabetes and obesity, as well as the analysis of a number of diabetic genetic Single Nucleotide Polymorphism, (which is a DNA sequence variation occurring commonly within a population) within the normal, pre-diabetic and diabetic population,” she continues.

The benefits of doing all this are many, and there are several different sectors that will benefit from this project. On the one hand, participants will benefit from having their measurements taken (blood pressure, weight, etc) while also learning about their predisposition to developing diabetes and high-blood pressure.

On the other, policy makers will now know what the current situation is with regards to the frequency of diabetes type 2, pre-diabetes, obesity, high blood pressure, smoking and alcohol habits among the population. Moreover, the study will also identity the risk factors that lead to these diseases, giving them an idea of how they could be managed. Indubitably, what helps the policy makers will also help take care of the nation’s health.

As a project, SAĦĦTEK has the financial backing of the Alfred Mizzi Foundation as the main sponsor; while support of the Faculty of Medicine and Surgery, Atlas Insurance, the Ministry for Energy and Health through the Parliamentary Secretary for Health, and the Research Trust is also notable. “RIDT has been of great help to this project,” explains Dr Cuschieri. “It not only provided substantial financial support but also helped in the initial PR of the project and launch.”

The project has commenced again in September and the team behind SAĦĦTEK will contact people living in the towns that have not yet been screened. While there’s no doubt that this project is a mammoth task, once compiled, it will prove to be extremely important for Malta’s public and private health sectors, as well as for the many who are prone to suffer from diabetes type 2. We urge all those who receive an invitation to participate and join us in understanding the health of the Maltese population.

You can be part of this fascinating world of research too by supporting many other researchers in all the faculties of the University of Malta. Please click here for more information on how to donate to research of this kind through the Research Trust (RIDT).Sahhtek – Health and Wellbeing Study

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On The Path to Curing ALS

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In recent months and weeks, amyotrophic lateral sclerosis (ALS) has been sprawled all over newspapers and newsfeeds. Its symptoms are cruel, but what shocks most people is the elusiveness of this degenerative disease’s cure. Here, however, Dr Ruben Cauchi explains how hope still springs eternal in laboratories all over the world.

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Dr Ruben Cauchi

When people first read about Bjorn’s heartbreaking story and how this pushed him to establish the ALS Malta Foundation, they felt sorrowful and almost a bit lost.

‘How could the body of a seemingly healthy individual turn on itself like that?’ some questioned.

‘And how has science, with all its advancements and daily discoveries, not know how to cure such a terrible and terrifying disease?’ others wondered.

Well, the long and short of it is: they’re trying. And laboratories and researchers in Malta are actually at the forefront of this race against time.

“Motor neuron diseases (MNDs) is a group of disorders in which motor neurons, or the nerve cells controlling the muscles we use to move around, breathe, speak and swallow, gradually degenerate and die. The consequences are muscle weakness and paralysis, as well as impaired speaking, swallowing and breathing, but intellect, memory or the senses remain unaffected,” explains Dr Ruben Cauchi, Senior Lecturer and Head of the MND Research Laboratory at the University of Malta’s Faculty of Medicine and Surgery.

So far, what we know about amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), which are the most common MNDs in adulthood and infancy, respectively, and other MNDs, is how they affect the person, but we still haven’t understood why the neuromuscular system falters.

“While there is no cure for these fatal disorders, the research activity over the past two decades has been intense,” Dr motor-neurone-imageCauchi continues. “Our research at the University of Malta is building on my previous work at the University of Oxford, where I investigated the function of the Survival Motor Neuron (SMN) gene, which is missing in children who suffer from MNDs.”

“In recent years, in my laboratory at the University of Malta, we have discovered that SMN does not act alone but works in alliance with the Gemin family of proteins to guard against damage to the motor system. These findings have been published in a number of reputable journals, too.

“Intriguingly, a flurry of studies have exposed that SMN is damaged in a wide range of MNDs, including ALS, and this,” he explains, “particularly indicates that SMN is at the heart of a shared pathway or process that goes awry in MNDs.”

All of this is believed to revolve around ribonucleic acid (RNA), which is the bridge between DNA, our hereditary material, and proteins, which are the building blocks of cells. And the researchers’ mission for the next decade is to figure out how all this comes together.

“This is a very important step in the process,” adds Dr Cauchi. “The missing pieces can serve as drug targets, which will allow us to manipulate the pathway to our advantage with the aim of halting, or at least slowing, the decline of the motor system experienced by MND sufferers. More importantly, in view of a common thread to all MNDs, we will be able to kill two, or more, birds with one stone!”

The advancements made in MNDs may not seem major to some, but in reality they are paving the way towards finally understanding – and, hopefully, curing – these diseases. Even so, the biggest difference between now and a few years ago, is that MNDs are more known about by the people on the street, and that is giving researchers the drive to continue working on it.

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Bjorn Formosa

“Bjorn’s dedication to the cause and his belief that research has the key to eradicate MNDs has generated a general enthusiasm in the laboratory, and that has continued fuelling our research,” says Dr Ruben.

“The partnership between the University of Malta Research Trust (RIDT) and the ALS Malta Foundation, with the aim of raising funds for MND research, is also a breath of fresh air for our research team since, in recent years, we have been struggling to fund our MND research programme.

“Unfortunately, given that MNDs are not common, they haven’t been given their due importance, but our aim now is to use these precious funds to enthuse Masters and PhD students to join our fight against one of the most catastrophic of human disorders. Furthermore, we will probably be in a better position to pursue collaborative ventures with premier European research institutes,” he concludes.

As RIDT, we are extremely excited to be a part of this awareness-building campaign and the fund-collecting effort – and all that’s been achieved so far is also thank to funds from people who continue to believe in Malta’s own researchers.

You can be part of this fascinating world of research, too, by helping many others achieve their breakthroughs in all the faculties of the University of Malta. Please click here for more information on how to donate to research of this kind through the Research Trust (RIDT).

Life with ALS: The Stark Reality

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Founder of the ALS Malta Foundation, Bjorn Formosa, gives us unique insight into what it really feels like to live with ALS and to know you’re facing certain death within the next two to three years’ time.

0795aa06d363106a5e649857bf689dddfd754662-1438503874-55bdd3c2-620x348At 28 years old, Bjorn Formosa was diagnosed with ALS (Amyotrophic Lateral Sclerosis), but his fighting spirit drove him not to give up and, instead, he went on to set up the ALS Malta Foundation. The months before and just after the diagnosis weren’t easy, however. Here is his story, in his own words.

“It all started about a year ago with mild cramps, which I attributed to anything but ALS… I didn’t take much notice until the end of the year, when I was playing football and started feeling a strange sensation in my legs. I can’t really explain it; it just felt different and my legs felt weaker than ever before.

“Then, in February of this year, I went back to the gym and it was then that I realised that something was really wrong. I was trembling lifting the lightest of weights and couldn’t do even the most basic of exercises, which I would have performed with ease in the past.

“So I paid a visit to a cardiovascular surgeon, thinking it was a circulatory issue, but my blood flow was just fine. I then booked an appointment with the first neurologist I could find, and that was when the drama started.

“I went there, petrified, thinking I had Parkinson’s but the neuro ‘reassured’ me it wasn’t that – but the look on his face said it all. It just showed that something was terribly wrong.

“I was then referred, with urgency, to hospital, where I started a series of tests including blood tests, scans, biopsies and every other test imaginable. Unfortunately, there is no biomarker in ALS, which means that there is no blood test with which ALS can be determined – they come to that conclusion when everything else has been excluded. So, basically, if you get a dirty EMG (Electromyography), ALS bodily symptoms, and all the results from the blood tests are clean, then you probably have some sort of MND (Motor Neuron Disease).

“Well, all results were clean, but, funnily enough, I was hoping that one of them would come back positive or that they would scan something abnormal. I was hoping for anything but ALS. Unfortunately my body was ‘healthy’, so it could only mean one thing: I had lower motor neuron degeneration from the anterior horn.

“I was so scared of ALS because I had diagnosed myself months before the final result came in. Googling and matching symptoms, it had become quite clear in which direction I was heading. The first weeks were surreal, absolutely terrible; my whole world fell apart and I could not believe this was happening to me. I had fought a million battles and won, but this, an incurable disease, which I can’t do anything about…

“It was then that I realised that I had to do something to have at least a fighting chance. I started preparing myself psychologically for the upcoming diagnosis and, weeks before that, I had already set up the roadmap for the creation of the ALS Malta Foundation. I was prepared to give ALS a hard time, to put it on the map of national health care, and to boost research towards finding a cure for this most terrible of diseases.

“Paradoxically, even though in a precarious health situation, I’ve never felt stronger or happier. I’m approaching life from a27b2c2beb24a2fdccb0463870247ab5c01304639-1440083292-55d5ed5c-620x348 completely different perspective. I do, of course, have some fantastic people that give me the added strength to move forward, and I’m determined not to give up till my last breath, and to leave a structure behind that can really cater and change the situation for people suffering with ALS in Malta.

“I’m not afraid of dying anymore, even though I know that every day is a countdown towards the inevitable. But that’s the same for everyone, I guess… After all, no one really knows their departure date.

“Now I wish I could have lived more, but maybe everything happens for a reason… And I will use my assigned time to successfully reach all of ALS Malta Foundation’s milestones and to, hopefully, help find a cure.”

The ALS Malta Foundation in collaboration with RIDT, are working on raising funds to help raise awareness, better the lives of ALS sufferers, and improve ALS/MND research at the University of Malta. Help us help them get there, by donating at http://www.alsmalta.org/donate. Alternatively, you can send an SMS to 5061 9271 to donate €11.65 or to 5061 8170 to donate €4.66. Monthly recurring donations starting from as low as €1 (per month) can also be set at http://www.alsmalta.org.