Motor Neurone Disease
Motor Neurone Disease is a name given to a group of related diseases affecting the Motor Neurons in the brain and the spinal cord. It is a muscle wasting disease that leaves the patient unable to do the everyday things we take for granted like walking and talking. It strikes the nerve cells that control the muscles so degeneration causes weakness and wastage of muscles.
This generally occurs in the arms and legs at first but some patients develop weakness and wastage in the muscles in their face and throat therefore creating problems with speech, chewing and swallowing. Motor Neurone Disease does not affect touch, taste, smell or hearing. Motor Neurone Disease is a fatal illness with a life expectancy of 3 – 5 years.
This disease strikes people from teenage to adults and in this year 2018 there are over 380 people living with M.N.D. in Ireland and we know that there are 14 people suffering from this dreadful disease living in Kerry In 2011 a total of 80 Motor Neurone sufferers passed away in Ireland. Put another way one person dies every 5 days from Motor Neurone Disease.
The vast majority of Motor Neurone patients are cared for in their own homes by their families. This is a life changing experience for both the patient and the family carers. Many of these carers have to give up their jobs to look after their loved ones thus incurring huge costs. Many of these carers are very private people and are slow to talk about the costs involved. Those of us who are involved in fundraising for Motor Neurone Disease know what is involved.
The Irish Motor Neurone Disease Association is the National charity and is the primary support organisation for those affected by Motor Neurone Disease. The IMNDA provide specialized services for people affected with this debilitating disease providing equipment on loan, Financial help towards home help and advice by specialized nurses.
In order to provide these services the IMNDA depends heavily on the generosity of the public and supporters of the Association who generate over 82% of its annual income.
**************************************************************
- ALS/MND RESEARCH
More than 200,000 people worldwide are living with Amyotrophic Lateral Sclerosis (ALS), also known as MND, a progressively degenerative neurological disease which affects about 300 people at any given time in Ireland, with some 110 new cases reported each year. While scientists and clinicians know the cause of ALS in about 10-15% of patients with the disease in Ireland, the cause for the remaining 85-90% remains unknown, but is thought to be due to a combination of genetic and environmental factors.
Finding new treatments
The best way to find new treatments for ALS is to develop the novel concepts of “precision medicine” by studying the disease in detail within an entire population.
Ireland is uniquely placed to achieve this, as the longest running continuous population based register of ALS in the world is held at Trinity College Dublin. Because 80% of all Irish ALS patients attend the specialist Centre of ALS expertise, there is an unrivalled opportunity to study the real life meaning of disease heterogeneity. World-class research in disease subtype, imaging, genetics, biomarkers, new treatments and health services is integrated at the Academic Unit of Neurology at Trinity College Dublin, led by Professor of Neurology in Trinity and Consultant Neurologist at Beaumont Hospital, Orla Hardiman.
Breakthroughs in research
Major breakthroughs in ALS research made by the Irish ALS Research Group have been in epidemiology (showing that ALS is less common in people of mixed ethnicity, and that survival depends on age and cognitive status), genetics (discovery of ANG, an ALS-causing gene in Ireland; and discovery of other genes as part of international consortia; discovery of a genetic link between ALS and schizophrenia) , biomarkers (new techniques in imaging and spectral EEG), genomics ( in collaboration with the international Project MinE initiative – over 700 Irish ALS genomes are sequenced) and health services research (multidisciplinary clinics improve survival). The Irish ALS Research Group also has an active programme of new drug discovery at laboratory and clinical levels.
Future research funding
Funding is crucial to expedite the research of Trinity scientists and clinicians and all donations big or small are very important.
Tim Sheehy, a well-known Irish businessman, was diagnosed with ALS in late 2014. Tim, who sadly passed away in 2015, wanted one of his legacies to be a contribution to progressing ALS research for the sake of future generations. Tim put his efforts towards creating a stronger foundation for ALS research in Ireland by helping to fundraise. You can learn more about Tim Sheehy and Project MinE here.
Find out more
To find out more about supporting ALS research please email Zhanna O’Clery or contact her by phone on +353 1 896 2088.
*************************************************************
Trinity experts in Motor Neurone Disease support Walk While You Can campaign
Experts in Motor Neurone Disease (MND) research from Trinity are seeking to increase awareness and raise badly needed funds for new research into the devastating neurodegenerative condition, by supporting the Walk While You Cancampaign that will see MND patient, Fr. Tony Coote, and hundreds of volunteers walk the length of Ireland over the next four weeks.
Fr. Coote was diagnosed with MND (also known as Amyotrophic Lateral Sclerosis) earlier this year and decided to embark on the walk in order to raise funds and to highlight the urgent need for further funding in this area. He will be joined on his journey by Professor of Neurology and Academic Director of the Trinity Biomedical Sciences Institute, Orla Hardiman, and a large number of Trinity researchers from her group, along with other volunteers from the Irish Motor Neurone Disease Association (IMNDA) and the SFI FutureNeuro Centre.
You can find out more about the specific route, which winds from Letterkenny, Co. Donegal, to Ballydehob, Co. Cork, and which is broken down into 28 different stages of varying lengths, at: http://wwyc.ie/. People are warmly welcomed to join the walk, or stages of it, to support the cause.
MND is a fatal neurodegenerative disease that strikes in midlife, and kills one person every two days in Ireland. People with MND experience rapidly progressive and ultimately fatal declines in their ability to move their muscles, to speak and to swallow. Half of those affected experience a decline in their ability to process information and manage their behaviour. Professor Hardiman’s groundbreaking research at Trinity has also shown that MND overlaps with other more common brain conditions including dementia and schizophrenia.
Professor Hardiman said: “There is currently no effective treatment for MND and in the past 15 years over 40 clinical trials of new treatments in humans have failed. Now is the time to move to a new precision-medicine-based approach towards treatment, but to achieve this we need a radical change in how we approach our research.”
“We now recognise that it is essential for MND researchers across Europe to join forces to capitalise on our individual strengths and to build on new and creative approaches that enhance our collective scientific expertise. It is also imperative that we include those, such as Fr. Coote, who are experiencing the disease first-hand. By working together we have a better chance of succeeding in our shared goal to find a treatment for MND.”
“We want to have the right drug in the right dose, for the right patient at the right time.”
By supporting and participating in the Walk While You Can campaign, Trinity joins other Centres of Excellence in Ireland, Holland, the UK, France, Belgium and Italy in a campaign to solve the problems of finding new treatments for MND.
Ireland has excelled in patient categorisation for many years, capitalising on the natural research strengths within the Irish population (epidemiology, genetics, bioengineering and quality of life) and the scientific expertise within Professor Hardiman’s MND Research Group in Trinity.
The Walk While You Can campaign will raise funds for specific research initiatives in Ireland that will enhance and share expertise with colleagues in Europe to bring better and more effective trials to those with MND. More information (and a donations page) can be found at: https://www.idonate.ie/fundraiser/11368954_walk-while-you-can.html
DNA mapping to investigate causes of motor neuron disease
26 January 2015
A new worldwide project that will dig deep into thousands of DNA profiles in order to discover the genetic causes of motor neuron disease (MND) is being launched in Ireland by Prof Orla Hardiman’s team of neurologists and geneticists in Trinity College Dublin.
With researchers certain that most forms of MND have a genetic basis, a team of international collaborators, including a team from Trinity’s Academic Unit of Neurology, are taking part in an unprecedentedly large-scale genetic mapping project called Project MinE, which will sequence the genomes (the full DNA profiles) of at least 15,000 people with MND and 7,500 control subjects (healthy individuals without the disease). The Trinity Neurology team is planning to sequence at least 400 genomes from MND patients and over 200 control genomes from all parts of Ireland.
MND is a devastating neurological condition where nerve cells (motor neurons) in the spinal cord, brainstem and brain progressively deteriorate and die. There is no cure. Most often, the first symptoms of MND are reduced strength in the arms and/or legs, or difficulty speaking, swallowing, or breathing. This leads to paralysis and eventually death through respiratory failure, in most cases within 3-5 years of onset.
More than 200,000 people worldwide are living with MND and it affects about 300 people at any given time in Ireland, with some 110 new cases reported each year. While scientists and clinicians know the cause of MND in about 10-15% of patients in Ireland, the cause for the remaining 85-90% remains unknown, but is thought to be due to a combination of genetic and environmental factors.
In Project MinE, Irish scientists, along with international collaborators, will perform comparative analyses between MND patients and control subjects to uncover associations between specific genetic variations or mutations and MND. By examining the genomes of thousands of MND patients and controls in minute detail the groundbreaking research will open up new opportunities to discover the various genes that cause different types of MND.
Ultimately, exploring the function of these genes, identifying how they interact with one another, and how these interactions occur in those with different types of MND, will lead to an improved understanding of disease mechanisms for which targeted treatments can be developed.
Genome sequencing of DNA samples
DNA samples that are collected from MND patients and healthy controls will be profiled with the aid of whole genome sequencing techniques. In recent years, emerging technological developments have helped to make initiatives like Project MinE possible. In 2001, the first full genome was sequenced at a cost of about 2.7 billion euros (in today’s money), involving thousands of scientists and taking ten years. Today, a genome can be sequenced in one day, in one lab, at a cost of about €2,000. However, the vast technological improvements also mean vast increases in the volumes of data produced, which means that suitably powerful computing infrastructures are required to handle, store and analyse the data.
Every bit a ‘big data’ challenge, Project MinE will generate some 1.8 petabytes of data at the peak of its analysis, and will require at least 700 CPU years to complete. To address this, Prof Hardiman’s team will make use of Ireland’s national supercomputing resource, the Irish Centre for High-end Computing. European collaborators, including the Irish team, will also have access to the Dutch SURFsara supercomputing infrastructure, currently ranked 45th in the TOP500 list of the world’s most powerful supercomputers.
However, perhaps the biggest challenge is meeting the funding requirements for this ambitious but highly worthwhile project. To this end, Project MinE has taken the unique approach to appeal to the public within its participating countries to help support the research. On the project’s website, visitors can opt to donate an amount of their choosing or sponsor a single chromosome or even a full DNA profile. The website also offers assistance to those wishing to set up a fundraising campaign for Project MinE. 100% of all donations made to Project MinE go directly towards the sequencing and analysis of these DNA profiles.
By sponsoring this research, benefactors are also helping a broader range of scientific and medical research in Ireland and beyond. The data Prof Hardiman’s team generates through Project MinE will be used in their research in MND in Ireland and all data generated as part of the overall worldwide collaboration will be freely exchanged amongst those working on Project MinE.
The genome sequences from control subjects will also serve as a rich resource of Irish genetic data for scientists and clinicians working on other disease areas which may have a genetic basis such as dementia, Parkinson’s disease, diabetes, autism and some cancers. Project MinE is therefore heralding a new frontier in biomedical research in Ireland and helping to maintain our position in the world as leaders in research and innovation.
For more information, please click here. If you are interested in helping to fundraise for this project or in donating a blood sample, please contact ireland@projectmine.com. If there is sufficient interest, a member of the team could come to Clyde Road at a suitable event, to speak to people about the project and collect blood samples. See below for an information video on the Trinity research.
campaign
Experts in Motor Neurone Disease (MND) research from Trinity are seeking to increase awareness and raise badly needed funds for new research into the devastating neurodegenerative condition, by supporting the Walk While You Cancampaign that will see MND patient, Fr. Tony Coote, and hundreds of volunteers walk the length of Ireland over the next four weeks.
Fr. Coote was diagnosed with MND (also known as Amyotrophic Lateral Sclerosis) earlier this year and decided to embark on the walk in order to raise funds and to highlight the urgent need for further funding in this area. He will be joined on his journey by Professor of Neurology and Academic Director of the Trinity Biomedical Sciences Institute, Orla Hardiman, and a large number of Trinity researchers from her group, along with other volunteers from the Irish Motor Neurone Disease Association (IMNDA) and the SFI FutureNeuro Centre.
You can find out more about the specific route, which winds from Letterkenny, Co. Donegal, to Ballydehob, Co. Cork, and which is broken down into 28 different stages of varying lengths, at: http://wwyc.ie/. People are warmly welcomed to join the walk, or stages of it, to support the cause.
MND is a fatal neurodegenerative disease that strikes in midlife, and kills one person every two days in Ireland. People with MND experience rapidly progressive and ultimately fatal declines in their ability to move their muscles, to speak and to swallow. Half of those affected experience a decline in their ability to process information and manage their behaviour. Professor Hardiman’s groundbreaking research at Trinity has also shown that MND overlaps with other more common brain conditions including dementia and schizophrenia.
Professor Hardiman said: “There is currently no effective treatment for MND and in the past 15 years over 40 clinical trials of new treatments in humans have failed. Now is the time to move to a new precision-medicine-based approach towards treatment, but to achieve this we need a radical change in how we approach our research.”
“We now recognise that it is essential for MND researchers across Europe to join forces to capitalise on our individual strengths and to build on new and creative approaches that enhance our collective scientific expertise. It is also imperative that we include those, such as Fr. Coote, who are experiencing the disease first-hand. By working together we have a better chance of succeeding in our shared goal to find a treatment for MND.”
“We want to have the right drug in the right dose, for the right patient at the right time.”
By supporting and participating in the Walk While You Can campaign, Trinity joins other Centres of Excellence in Ireland, Holland, the UK, France, Belgium and Italy in a campaign to solve the problems of finding new treatments for MND.
Ireland has excelled in patient categorisation for many years, capitalising on the natural research strengths within the Irish population (epidemiology, genetics, bioengineering and quality of life) and the scientific expertise within Professor Hardiman’s MND Research Group in Trinity.
The Walk While You Can campaign will raise funds for specific research initiatives in Ireland that will enhance and share expertise with colleagues in Europe to bring better and more effective trials to those with MND. More information (and a donations page) can be found at: https://www.idonate.ie/fundraiser/11368954_walk-while-you-can.html
MND affects the nerves (motor neurons) in the brain and spinal cord that tell muscles what to do. As the nerves become damaged, the muscles they control weaken and waste. The muscles first affected tend to be those in the hands, feet or mouth and throat – depending on which type of the disease it is. It is not contagious.
It is often referred to as the 1,000-day disease as most people die within 1,000 days of the onset of symptoms. However, while MND is a progressive, life-limiting disease, the rate of progression varies greatly from one person to another.
And, while it is more common after the age of 50, it can strike any age.
Hawking was only 20 when he began to fall over inexplicably and his speech became slurred – both common indicators of the onset of MND.
The disease took hold slowly, damaging the nervous system, which leads to muscle weakness, stiffening and waste. Eventually, he was unable to move, talk, or even swallow and breathe without medical help.
“In my third year at Oxford, I noticed that I seemed to be getting more clumsy, and I fell over once or twice for no apparent reason,” he wrote many years ago. “But it was not until I was at Cambridge that my father noticed, and took me to the family doctor. He referred me to a specialist, and shortly after my 21st birthday, I went into hospitals for tests . . . it was a great shock to me to discover that I had motor neuron disease.”
He still managed to have a long and, by any measure, incredible career as a theoretical physicist, cosmologist and author. It may be known as the 1,000-day disease, but Hawking survived more than 20,000 days after his diagnosis.
Life expectancy for people with motor neuron disease appears to be dependant on two things – the motor neurons controlling the breathing muscles in the diaphragm, and those affecting the swallowing muscles. The most common way for people to die is of respiratory failure, and therefore how progressive the disease is in this area in particular is crucial.
Regardless, Prof Hawking’s long life has confused and astounded experts in the field of MND. While he undoubtedly received excellent medical care during the past five decades, it is considered more likely that his beating the odds was down to the biology of the disease.
There are 120 number of new cases of MND diagnosed in Ireland every year, with more than 380 people currently living with the condition in the State.
“Stephen Hawking was an inspiration to so many,” says Aisling Farrell, head of the Irish Motor Neurone Disease Association (IMNDA). “He never let his illness define or limit him. Throughout his life he did so much to raise awareness of motor neuron disease around the world. Our condolences to his family during this sad time.”
Hawking lived a remarkably long time with the disease – despite being paralysed and completely dependent on others. “I try to lead as normal a life as possible, and not think about my condition, or regret the things it prevents me from doing, which are not that many,” he wrote. “I have been lucky that my condition has progressed more slowly than is often the case. But it shows that one need not lose hope.”
While his long life after diagnosis is unusual, it is not without precedent – and even in Ireland there are cases of people being diagnosed with MND in their youth and living till old age.
Andy McGovern turned 85 last month. He was diagnosed with MND 42 years ago.
“At my initial diagnosis, I don’t think anyone thought I would be the longest MND survivor in Ireland,” said McGovern, “but I think I achieved that accolade with a combination of faith in God, many trips to Lourdes, the support of my family and my own positive outlook”.
The young age of McGovern and Prof Hawking when they were diagnosed may have contributed to their long lives. “We have found that the survival in younger patients (with MND) is strikingly better and is measured in many years – in some cases more than 10,” Nigel Leigh, a professor of clinical neurology at King’s College London, told the British Medical Journal in 2002. “It’s a different beast if you start young, oddly, and no one knows why.”
There is no cure for MND and no clear answer about what causes the condition.
That is not for the want of trying.
Researchers throughout the world have dedicated their lives to trying to unlock the secrets of MND. Last November, researchers in the Academic Unit of Neurology at Trinity College Dublin – a newly formed unit – announced they had made the surprising discovery that some specific parts of the brain are “over-connected” in MND, while other parts show reduced activity as the brain networks disintegrate.
And, last September, a consortium led by biomedical researchers at Ulster University were allocated funding from a US-based foundation to further explore the involvement of muscles in the progression of MND.
While there is no know cure, yet, the symptoms can be managed, with drugs such as Riluzole (Rilutek) helping to slow the disease’s progress.
MOTOR NEURON DISEASE SYMPTOMS
Early – Difficulty picking up or holding things, weakness in arms and legs, falling over, fatigue, muscle pain and cramps, slurred speech, difficulty swallowing or breathing.
Later – Muscle pain and spasms, muscles shrinking, joint pain, difficulty eating, drinking, swallowing and breathing.
MOTOR NEURON DISEASE TYPES
Amyotrophic lateral sclerosis (ALS) – The most common form, involving upper and lower motor neurons – characterised by weakness and wasting in the limbs. Average life expectancy is 2-5 years from onset of symptoms.
Progressive bulbar palsy (PBP) – Affects a quarter of people diagnosed, also involving upper and lower motor neurons. Life expectancy is between six months and three years.
Progressive muscular atrophy (PMA) – Affects a small proportion of people, involving damage to lower motor neurons. Most people live for more than five years.
Primary lateral sclerosis (PLS) – Rare , involving upper motor neurons. Usually characterised by weakness in lower limbs. Life expectancy depends on whether it develops into ALS, but could be normal.
*************************************************************