Diseases

One in four people in Ireland will be directly affected by a neurological disease during their lifetime. By focusing on Diagnostic, Therapeutic and eHealth solutions, we are developing new technologies and solutions that will benefit people with Epilepsy, Motor Neurone Disease, Multiple Sclerosis, Parkinson’s, Dravet, Angelman Syndrome, Fragile X and Rett Syndrome.

Epilepsy

Epilepsy is a neurological disorder which affects the brain. It is a tendency to have repeated seizures. This tendency can be long term but the seizures can be controlled meaning that a person can have epilepsy but they may not have active seizures. Seizures can start in a part of the brain or happen in both sides of the brain at once. Nearly 40,000 people in Ireland have epilepsy as do 50 million people worldwide. For many people, their epilepsy affects them most while seizures are active. For others, the impact of having epilepsy may be longer term, if their seizures continue.

Areas of Expertise

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Researchers

Justine Mathoux

Justine Mathoux

Aoife Campbell

Aoife Campbell

Ciaran Campbell

Ciaran Campbell

Rogerio Da Rosa Gerbatin

Rogerio Da Rosa Gerbatin

Jonathan Smith

Jonathan Smith

Jennifer Dowling

Jennifer Dowling

Mona Heiland

Mona Heiland

Karen Conboy

Karen Conboy

Austin Lacey

Austin Lacey

Amaya Sanz Rodriguez

Amaya Sanz Rodriguez

Omar Mamad

Omar Mamad

Aileen Harnett

Aileen Harnett

Characterization of the Expression of the ATP-Gated P2X7 Receptor Following Status Epilepticus and during Epilepsy Using a P2X7-EGFP Reporter Mouse

Analysis of the aetiology of epilepsy in 3,216 adult patients attending a tertiary referral center enabled by an electronic patient record

Genetic deletion of microRNA-22 blunts the inflammatory transcriptional response to status epilepticus and exacerbates epilepsy in mice

Genome-wide microRNA profiling of plasma from three different animal models identifies biomarkers of temporal lobe epilepsy

P2X7 Receptor-Dependent microRNA Expression Profile in the Brain Following Status Epilepticus in Mice

White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

Polyadenylation of mRNA as a novel regulatory mechanism of gene expression in temporal lobe epilepsy

Location-specific reflex epilepsy: a novel reflex epilepsy phenotype

A systems approach delivers a functional microRNA catalog and expanded targets for seizure suppression in temporal lobe epilepsy

Incidence of first seizures, epilepsy, and seizure mimics in a geographically defined area

MicroRNAs as regulators of brain function and targets for treatment of epilepsy

Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

The ENIGMA‐Epilepsy working group: Mapping disease from large data sets

Quantification of tRNA fragments by electrochemical direct detection in small volume biofluid samples

Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study

Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Testing association of rare genetic variants with resistance to three common antiseizure medications

Could the 2017 ILAE and the four-dimensional epilepsy classifications be merged to a new “Integrated Epilepsy Classification”?

Differential Expression of the Metabotropic P2Y Receptor Family in the Cortex Following Status Epilepticus and Neuroprotection via P2Y 1 Antagonism in Mice

Altered Biogenesis and MicroRNA Content of Hippocampal Exosomes Following Experimental Status Epilepticus

Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects

Epigenetics and noncoding RNA: Recent developments and future therapeutic opportunities

De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years

Exploring the genetic overlap between psychiatric illness and epilepsy: A review

Are patients ready for integrated person-centered care? A qualitative study of people with epilepsy in Ireland

The Anti-inflammatory Compound Candesartan Cilexetil Improves Neurological Outcomes in a Mouse Model of Neonatal Hypoxia

Targeting microRNA-134 for seizure control and disease modification in epilepsy

Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care

Electrical stimulation of the ventral hippocampal commissure delays experimental epilepsy and is associated with altered microRNA expression

Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy

MicroRNAs as biomarkers and treatment targets in status epilepticus

Elevation of plasma tRNA fragments precedes seizures in human epilepsy

Context-Specific Switch from Anti- to Pro-epileptogenic Function of the P2Y1 Receptor in Experimental Epilepsy

Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures

A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years

MicroRNA-22 Controls Aberrant Neurogenesis and Changes in Neuronal Morphology After Status Epilepticus

Regulation of P2X7 receptor expression and function in the brain

Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients

Discovery and validation of blood microRNAs as molecular biomarkers of epilepsy: Ways to close current knowledge gaps

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

RNA-sequencing analysis of umbilical cord plasma microRNAs from healthy newborns

Dual-center, dual-platform microRNA profiling identifies potential plasma biomarkers of adult temporal lobe epilepsy

Bi-directional genetic modulation of GSK-3β exacerbates hippocampal neuropathology in experimental status epilepticus

Spared CA1 pyramidal neuron function and hippocampal performance following antisense knockdown of microRNA‐134

The phenotype of bilateral hippocampal sclerosis and its management in “real life” clinical settings

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

Motor Neurone Disease

Motor Neurone Disease (MND) is a progressive neurological condition that attacks the motor neurones, or nerves, in the brain and spinal cord. This means messages gradually stop reaching the muscles, which leads to weakness and wasting.

MND can affect how you walk, talk, eat, drink and breathe. However, not all symptoms necessarily happen to everyone and it is unlikely they will all develop at the same time, or in any specific order.

The cause of MND is not known. There may be environmental factors that trigger the damage in people who are susceptible to the disease. On going research is necessary to find out the nature of these environmental factors, and what makes one person more susceptible than another.

MND strikes people of all ages and currently there is no cure, however symptoms can be managed to help the person achieve the best possible quality of life.

Areas of Expertise

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Researchers

Sinead Impey

Mei Mei Yang

Mei Mei Yang

Mark Doherty

Mark Doherty

Anna Markella Antoniadi

Anna Markella Antoniadi

Elisabeth Jirström

Elisabeth Jirström

Niamh Connolly

Niamh Connolly

Paul Donovan

Paul Donovan

Russell McLoughlin

Russell McLoughlin

Catherine Mooney

Catherine Mooney

Sanbing Shen

Sanbing Shen

Orla Hardiman

Orla Hardiman

Jochen Prehn

Jochen Prehn

Multiple Sclerosis

Multiple Sclerosis is a condition affecting the central nervous system (CNS), which consists of the brain and the spinal cord. The CNS controls the motor, sensory and cognitive functioning of the body by processing and transmitting messages through a network of nerves. These nerves are covered by a fatty substance called myelin, which helps to conduct the messages. MS develops when the body’s immune system mistakenly attacks this myelin, thinking that it is a foreign substance. 

The purpose of our immune system is to protect the body from infection. A variety of cells (macrophages, T-cells, B-cells, and others) work together to destroy the invading cells and the cells it has infected. In normal circumstances, the body is able to distinguish between the body’s own cells and those that have invaded the immune system. However, in some circumstances, the body is unable to recognise one from the other and begins to attack the body’s healthy cells. 

In MS, when the immune system attacks the nerves it damages or destroys the myelin sheath, causing inflammation in the area of attack. This process is known as demyelination. It causes the messages being sent by the CNS to slow down or become blocked. While the initial attack may not last long, scar tissue forms over the area. This scar tissue can be viewed as the white spots on an MRI scan, commonly referred to as plaques or lesions

Areas of Expertise

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Researchers

Sanbing Shen

Sanbing Shen

Robert Forster

Robert Forster

Colin Doherty

Colin Doherty

Matthew Campbell

Matthew Campbell

Orla Hardiman

Orla Hardiman

Jochen Prehn

Jochen Prehn

Gianpiero Cavalleri

Gianpiero Cavalleri

David Henshall

David Henshall

Parkinson’s

Parkinson’s disease (Parkinson’s) is a progressive neurological disorder, and is classified as a Movement Disorder, as it primarily affects movement. It is variable in its progression, i.e. some people progress more slowly than others, and the symptoms can be effectively controlled with medication for many years. Parkinson’s disease is caused by a loss of a chemical called dopamine. We all lose some of this chemical as we get older, however, it is only when we have lost about 80% of our dopamine we start to have symptoms. So people with Parkinson’s have lost this chemical at a faster rate than others.

Although Parkinson’s is a movement disorder, there are both motor and non-motor symptoms associated with it.

Areas of Expertise

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Researchers

Sanbing Shen

Sanbing Shen

Robert Forster

Robert Forster

Colin Doherty

Colin Doherty

Matthew Campbell

Matthew Campbell

Orla Hardiman

Orla Hardiman

Jochen Prehn

Jochen Prehn

Gianpiero Cavalleri

Gianpiero Cavalleri

David Henshall

David Henshall

Paediatric Neurological Diseases

Parkinson’s disease (Parkinson’s) is a progressive neurological disorder, and is classified as a Movement Disorder, as it primarily affects movement. It is variable in its progression, i.e. some people progress more slowly than others, and the symptoms can be effectively controlled with medication for many years. Parkinson’s disease is caused by a loss of a chemical called dopamine. We all lose some of this chemical as we get older, however, it is only when we have lost about 80% of our dopamine we start to have symptoms. So people with Parkinson’s have lost this chemical at a faster rate than others.

Although Parkinson’s is a movement disorder, there are both motor and non-motor symptoms associated with it.

Areas of Expertise

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Researchers

Sanbing Shen

Sanbing Shen

Robert Forster

Robert Forster

Colin Doherty

Colin Doherty

Matthew Campbell

Matthew Campbell

Orla Hardiman

Orla Hardiman

Jochen Prehn

Jochen Prehn

Gianpiero Cavalleri

Gianpiero Cavalleri

David Henshall

David Henshall