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.
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
Cauchi 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.
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).