If you haven’t had a bucket of iced water poured over your head recently, you probably know someone who has. The astonishingly successful #icebucketchallenge Facebook campaign, in which people agree to a chilled soaking to raise money for amyotrophic lateral sclerosis (ALS), has generated unprecedented publicity for a previously little-known disease.
However, long before the campaign went viral, scientists across Europe have been working to combat ALS, which kills ten thousand people each year. Since 2007, the EU has invested over EUR 56 million into research to tackle the disorder, a type of motor neurone disease that paralyses and eventually kills people.
With the help of this funding, European scientists are gradually building a more comprehensive picture of the causes and progression of ALS, with the aim of one day finding a cure. Dr Caterina Bendotti, who is a lead researcher on the Euro-MOTOR project, said the mechanisms through which the disease progresses are still unclear.
‘At the moment, we know many more genes linked to the disease but we still need to identify factors that help to make an early diagnosis of the disease,’ said Dr Bendotti. ‘It takes about one year to be diagnosed and at that point many motor neurons are lost.’
‘It takes about one year to be diagnosed and at that point many motor neurons are lost.’
Dr Caterina Bendotti, head of the Laboratory of Molecular Neurobiology, Mario Negri Institute for Pharmacological Research, Milan, Italy
Researchers on the Euro-MOTOR project – who come from 15 different institutes in Belgium, France, Germany, Ireland, Italy, the Netherlands and the United Kingdom – are constructing a large database of clinical and lifestyle information of people with ALS across Europe. By applying computational techniques to this data, they aim to build a model of the causes of ALS at a molecular level, which can then be used to provide targets for new therapies.
‘We’ve made very good progress in understanding disease-modifying molecules,’ said Dr Bendotti. ‘This means that the protein or the gene can be targeted for slowing down significantly the progression of the disease.’
However, one of the complexities of ALS is that there are many different types; some with a genetic cause and some without a defined origin. Dr Stefania Corti from the University of Milan, Italy, said that scientists are closer to finding a cure for some genetic types of ALS than for sporadic forms – by using single strands of DNA or RNA, called oligonucleotides, to alter how information from the gene is used.
Dr Corti works on the EU-funded NO-MND project, which looks at the role that a particular type of cell in the brain and spinal cord – known as an astrocyte – plays in the onset of ALS. By understanding more about how these cells work researchers hope to develop a new way of treating the disease, for instance by transplanting astrocytes.
Turning to the tropics
Help with our understanding of the disease is also coming from an unlikely source – the zebrafish. Researchers on the NOVEL-ALS MODELS project are hoping to identify the gene responsible for ALS and to develop models of these genetic factors using the tropical fish.
Dr Edor Kabashi of the Brain and Spinal Cord Institute in Paris, France, who is leading the project, says that developing multiple animal models is necessary to define the function of ALS-causing genes and to better understand the causes of motor neuron degeneration that occurs in humans.
‘The problem in general with ALS is that once the first gene was discovered and a very good mouse model was made, people were hopeful that we would find a cure quite fast,’ he said. ‘But a lot of the treatments that worked with the mouse didn’t translate to (human) treatments. There has been a lot of lag basically from the result obtained from animal models to translation of these findings in human patients.’
Elsewhere, scientists are working on ways of slowing down the progression of ALS by looking at the reasons that some people develop the disease at age 30 and others at age 70, even if they have the same genes.
‘We want to identify systems that maybe don’t cause ALS but shape it into the disease that it is,’ said Professor Wim Robberecht from the University of Leuven, Belgium, who leads the EU-funded MODIFALS project.
‘There are factors that determine when ALS starts in patients and these are independent of the cause of ALS. If you can influence this then you can change ALS from a disease which starts between the ages of 40 to 60 to a disease which starts from between 100 and 120 years of age.’
As most people are unlikely to live this long, this would mean that the disease would be pushed back so far it would be essentially ineffective.
‘Or you can change ALS from a disease which now incapacitates almost all people after one year into a disease which is associated with minor disability after 20 years of evolution,’ added Prof. Robberecht.
While there is still a lot of work to do to find an effective cure for ALS, scientists have welcomed the new focus on their research brought by the ice bucket challenge, which has raised over EUR 75 million for ALS research. More than 2.4 million ice bucket challenge videos have now been posted online, including one by Máire Geoghegan Quinn, the EU Commissioner for Research, Innovation and Science.
‘I know many people from the general public, including my parents, and colleagues who have participated. It’s a great way to raise awareness and to raise funds against this drastic disease,’ said Dr Kabashi.
ALS is a type of motor neurone disease, in which the neurons in the brain and spinal cord degenerate, leading to muscle weakness.
As the disease progresses, previously healthy individuals slowly become paralysed, losing control of their body parts one by one. In some tragic cases ALS strikes the face first, leaving the patient unable to speak. Finally the disease hits the lungs, at which point the patient suffocates and chokes to death.
There is as yet no known cure. Some people survive for up to twenty years after diagnosis, although the average survival rate after the onset of symptoms is three years. The only currently available drug extends the lifespan by between three and six months.
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