The future of neurological research

Prof David Henshall, Ms Ciara Courtney, and Ms Bridget Doyle, outline the latest developments from the FutureNeuro SFI Research Centre 

According to the Neurological Association of Ireland (NAI), there are over 800,000 people in Ireland living with a neurological condition. Brain diseases have a devastating impact on people living with neurological conditions, their families and carers.

They are estimated to cost the economy €3 billion each year. The FutureNeuro Science Foundation Ireland (SFI) Research Centre was established in 2017 to address the significant unmet needs of people living with chronic and rare neurological disorders and to support the health professionals who care for them. 

FutureNeuro is hosted by the RCSI University of Medicine and Health Sciences, with researchers based in six other Irish academic institutions: Trinity College Dublin (TCD); Dublin City University; University College Dublin (UCD); NUI Galway; University College Cork; and Waterford Institute of Technology.

Operations began in October 2017 and since then, FutureNeuro has significantly increased in size. In total, there are 87 academic and clinical researchers and support staff based across these third level institutions and in the main hospitals associated with the Centre – Beaumont and St James’s Hospitals, Dublin, and Cork University Hospital. 

FutureNeuro is a unique, multi-disciplinary and inter-institutional research centre focusing on epilepsy, motor neurone disease (MND), multiple sclerosis (MS), Parkinson’s disease, and a rare paediatric disease, and performing basic, applied and translational research in the area of diagnosis, therapeutics and e-health. Their work is focused in partnership with the health service, patient organisations and industry to make breakthrough discoveries on the causes of brain disease and the development of innovative technological solutions that help with diagnosis, treatment, and management. 

FutureNeuro’s scientific strategy has focused on: 

• Developing stratification tools that facilitate diagnosis and clinical trials
• Discovery and validation of biomarkers for point-of-care diagnostics
• Application of genomic testing and pharmacogenomics to deliver precision medicine
• Bringing innovative and disease-modifying therapeutic leads into preclinical development
• Maximising adoption of e-health-enabled care and research including ‘big data’ and artificial intelligence (AI)

Some achievements during phase one of the centre include: (2017-present) 

• 180 original publications including breakthroughs in diagnostics (discovery of novel class of circulating biomarkers and technology for their detection), therapeutics (new RNA metabolism pathways, potent disease-modifying therapies and their mechanisms of action) and e-health (applying innovative technological solutions for self-monitoring of chronic disease). 
• Training of 19 PhDs, 17 postdoctoral fellows (of which five started their own laboratories). 
• Investigator pool growth from 11 to 23 and from 12 to 48 research projects. 
• Leadership of eight international consortia including TRICALS, EPIXCHANGE. 

Industry 

Working with the leading companies in neurology is critical to the Centre’s impact. During 2021, FutureNeuro worked collaboratively with multiple industry partners including Roche, UCB, Janssen, and Congenica. The projects address a range of topics including improved blood-based diagnostics, preclinical testing of new molecules to treat seizures, and ambulatory seizure monitoring. 

Scientific highlights in 2021 

Despite the impact of Covid on bench and clinical research, 2021 was another busy and successful year for FutureNeuro, with a number of important scientific breakthroughs. FutureNeuro is closely integrated into the national clinical neurology network, both adult and paediatric. This has facilitated access to key neurologists that have been critical to the success of the Centre and in turn has brought direct benefit to diagnostics and care. Both SFI-funded platform and industry research projects (eg, Congenica) led by Prof Gianpier Cavalleri and Prof Norman Delanty and through the work of Dr Katherine Benson have supported genomic clinical diagnosis in over 230 people, which has had a significant impact for these individuals and their families. 

Elevated blood purine levels as a biomarker of seizures and epilepsy 

Dr Tobias Engel and his team at RCSI, together with researchers in UK, Germany and clinical colleagues in Beaumont Hospital, identified a potential new biomarker that could lead to the diagnosis and detection of epilepsy via a novel, user-friendly point-of-care device, which requires a drop of blood and gives results within minutes. The discovery was made by measuring blood purine concentrations using a point-of-care diagnostic technology based on the summated electrochemical detection of adenosine. Measurements of blood purine concentrations were carried out using finger prick samples from preclinical models and in video-electroencephalogram (EEG)-monitored adult patients with epilepsy. The paper is published in Epilepsia at: https://onlinelibrary.wiley.com/doi/full/10.1111/epi.16839 

Identifying new mutations associated with early-onset dementia 

Dr Matthew Campbell and his research team in TCD identified previously unreported mutations in a gene called colony stimulating factor-1 receptor (CSF-1R) in an ultra-rare form of Alzheimer’s disease. This discovery may lead to better understanding of how Alzheimer’s and other dementias occur. Read the full study published in Embo Molecular Medicine at www.embopress.org/doi/full/10.15252/ emmm.202012889 

FutureNeuro epilepsy clinical network pivot to telecare during Covid-19 

Before the onset of the Covid-19 pandemic, telemedicine was already an important part of the FutureNeuro Centre. Building on the HSE eHealth Ireland-funded epilepsy Lighthouse project, FutureNeuro researchers developed a pilot e-portal, allowing people to access and co-author their own epilepsy care records. The redeployment of staff to Covid- 19-care and the closure of outpatient services created an urgent need to provide safe remote patient care. With access to patient-co-authored records within the national epilepsy electronic patient record (EPR), Profs Colin Doherty (St James’s Hospital) and Norman Delanty (Beaumont Hospital) moved 1,600 patient clinics online using a mixture of telephone and virtual appointments. Research by the FutureNeuro e-health team into the facilitation of tele-clinics demonstrated no loss of care contact for patients with epilepsy, and the patient survey showed that telemedicine is seen as an effective and satisfactory method of delivering chronic outpatient care. This paper was published in Epilepsy Behaviour, and can be accessed here: www.epilepsybehavior.com/article/ S1525-5050(20)30855-6/fulltext 

“The Irish national epilepsy electronic patient record (EPR) and the subsequent development of the electronic patient portal (e-portal) have facilitated changes in patients’ care pathways and improved patient-clinician contact and has engendered greater patient self-management (Power et al, 2020). These structures provide Irish policymakers with a template for expanding an EHR to other patient populations, and ultimately to establish a national EHR.” 

In addition to this, in June last year, the Economic and Social Research Institute (ESRI) published the report Advancing a Digital Healthcare Future for Ireland citing the work of FutureNeuro, which can be accessed at: www.esri.ie/publications/developments-in-healthcare-information-systems-in-ireland-and-internationally 

Prediction of caregiver quality-of-life in amyotrophic lateral sclerosis (ALS) using explainable machine learning 

Dr Catherine Moone and PhD candidate Anna Markella Antoniadi, both from UCD, and Prof Orla Hardiman (TCD), published a study in Scientific Reports on the identification of the predictors of a caregiver’s quality-of-life, in addition to the development of a model for clinical use, which would alert clinicians when a caregiver is at risk of experiencing low quality-of-life. The data was collected through the ALS registry and via interviews with 90 patient and caregiver pairs at three time-points. The study is available here: www.nature.com/articles/s41598-021-91632-2 

Building capacity to tackle neurological disease 

NeuroInsight 

Tackling neurological disease remains FutureNeuro’s number one priority. Over a four-year period, the NeuroInsight Marie-Sklodowska Curie Fellowships programme will train 33 research fellows who conduct projects combining neurology and data. They will gain practical experience in hospitals and industry. The programme will facilitate high quality research, provide opportunities to interact with clinicians, patient groups and datasets, and establish a talented group of future research leaders. To find out more and how to apply, visit www.neuroinsight.eu 

Empower 

In October 2021, the Empower Data Governance Programme which was co-created by FutureNeuro was launched. As a health research centre, Empower will create a community of practice involving patients, their carers, clinicians, statutory bodies, industry and researchers to explore how and why patient data is used for healthcare improvement and research, and develop a culture that promotes the trustworthy use of data, to facilitate collaborative, transparent and citizen-centric opportunities for the safe and ethical use of health data. 

Empower will harness the collective research capabilities across four participating SFI Centres – FutureNeuro, ADAPT, Insight, and Lero (programme lead). The programme will address many different types of data ecosystems, with health data being the prime focus of FutureNeuro. See more information at www.futureneurocentre.ie  

Education and public engagement 

Education and public engagement is a key focus for the entire FutureNeuro team. We have successfully partnered with NGOs, such as Epilepsy Ireland, to deliver a series of nationwide Epilepsy in English workshops addressing sensitive topics such as sudden unexpected death in epilepsy (SUDEP), temporal lobe epilepsy (TLE), gene therapy and managing epilepsy. We are prioritising public and patient involvement in our research. With the appointment of a part-time engagement expert, we are currently establishing a patient advisory council, representing both adult and paediatric patients with a lived experience of MS, MND, and epilepsy. 

For more information on the work of FutureNeuro go to www.futureneurocentre.ie 

AUTHORS: Prof David Henshall, FutureNeuro Centre Director and Professor of Molecular Physiology and Neuroscience at the RCSI University of Medicine and Health Sciences; Ms Ciara Courtney, Communications and Education and Public Engagement Lead, FutureNeuro; and Ms Bridget Doyle, Centre and Business Development Manager, FutureNeuro