Brain Awareness Week 2021: Tackling Motor Neurone Disease through research
Posted on: 17 March 2021
Within the Academic Unit of Neurology at Trinity, the main research focus is on Amyotrophic Lateral Sclerosis (ALS), also known as Motor Neurone Disease (MND). ALS/MND is a fatal neurodegenerative disease that strikes in midlife and kills one person every 2 days in Ireland. People with ALS experience rapidly progressive and ultimately fatal decline in their ability to move their muscles, to speak and to swallow. Half of those affected by ALS experience decline in their ability to process information and to manage their behaviour.
There is now strong evidence that ALS has many different causes, and that there are considerable differences in how the disease behaves. Some people die within 2 months of their first symptom, and some can live for over 50 years (for example, Stephen Hawking). Some have thinking problems and others remain intact. And research has found that some belong to families with a higher than expected number of members with additional neurological and psychiatric disorders, while others have no family members with any type of brain disorder.
Professor Orla Hardiman and her team’s world class research strengths are in clinical evaluation, epidemiology, neuropsychology, genetics, brain imaging and neural engineering. They work closely with the Trinity Clinical Research Facility,St James Hospitaland atBeaumont Hospitalin Dublin. The team’s research will help to fast track and reduce the cost of clinical trials by making sure that the right drug is given to the right patient at the right time, in the right dose, using a precision medicine approach. Precision medicine recognizes that the factors leading to disease are likely to differ between patients, and that a much better understanding of basis for these differences is required.
To achieve this, Professor Hardiman and her team are developing research tools that will allow them to reliably identify distinct subgroups of patients with well-defined characteristics. Some of these characteristics can been identified by detailed clinical examination or neuropsychological assessment, or by genetic analysis. But other characteristics will require new innovations in brain wave mapping and imaging.
Recent research successes at the Academic Unit of Neurology
In the past year, the team have had some notable successes in their research. They have participated in the first gene-based therapy trial for ALS and have two similar trials planned for this year (2021).
Their epidemiology research has shown that genetic factors contribute to half of the risk of developing ALS, and they are working with the International Project MinE Consortium (www.projectmine.com) , and colleagues in South America to identify which combinations of genes increase or reduce the risk. Interestingly, they are also studying whether different ancestral populations have different manifestations of ALS.
EEG studies undertaken by the team have shown that different subgroups of patients have different and distinct patterns of brain network disruption. These patterns also predict how fast or slow the disease progresses, and these patterns are also reflected in changes in the brain that we can detect on MRI.
The work with those with the disease has been instructive in teaching the research team that how people experience illness often differs from how doctors define disease progression. As a result, they are now developing better measures that incorporate with greater clarity the perspectives of those with the condition and their families.
Professor Hardiman’s team recognised the impact that the COVID pandemic was having on patients with MND and the difficulties it presented in terms of the provision of medical care and support. In response they have developed a new smart phone application that will allow them to develop new and better ways to monitor the disease and reduce the need for patients to attend the hospital. You can read more about this exciting development here: https://bit.ly/38IqtfG