Funding Awarded

Cystic Fibrosis Liver Disease (CFLD); predicting and prescribing in the era of CFTR modulators

Life expectancy for people with Cystic Fibrosis (PWCF) has improved dramatically over the last 2 decades. This improved survival has not been observed in those with CF liver disease (CFLD). In the Irish Longitudinal Study of CFLD (ILSCFLD), we found that those with CFLD had a mortality rate difference of 6.6 versus those with no liver...

Developing an innovative patient-centred xenograft model of multiple myeloma and its use in testing novel antagonists of JAM-A signalling

Multiple myeloma (MM) is an incurable cancer in which uncontrolled plasma cell proliferation disrupts the bone marrow environment and impairs immune function. With poor 5-year patient survival (<50%), better clinical models and pipelines for targeted therapies are urgently required. This proposal will focus on both. Firstly, an MSc...

Development of mRNA Vaccines for Children with High-Risk Neuroblastoma

Neuroblastoma is one of the most aggressive childhood cancers contributing to 15% of cancer related childhood deaths. At diagnosis half of the patients have a metastatic tumour and recurrence is very common. Despite advances in available therapies, children with drug-resistant and relapsed neuroblastoma have a dismal outlook with...

A pain and wound management approach for RDEB patients via a functionalized collagen-based hydrogel dressing with controlled release of painkillers

Patients with Epidermolysis Bullosa (EB) have a broad spectrum of need for pain and wound treatment, varying with the type of EB, the severity within that type, and the particular physical, emotional, and psychological milieu of each individual. EB research has advanced considerably in the past decade and wound and pain management have...

Ex vivo autologous stem cell gene therapy for Multiple Sulfatase Deficiency

Multiple Sulfatase Deficiency (MSD) is an inherited lysosomal storage disorder (LSD) that predominately involves the brain, bones, and skin. The disease is due to mutations in SUMF1, a gene that provides the instructions for making an important enzyme called formylglycine generating enzyme (FGE). The FGE enzyme activates all the...

Surgery, radiotherapy, chemotherapy, but now what? Exploring the rehabilitation needs of people with brain tumours in Ireland

In Ireland, about 480 people are diagnosed with primary brain tumours every year. Many more people develop secondary brain tumours arising from other cancers. Brain tumours can shorten life span and cause many problems including muscle weakness, speech difficulties, loss of mobility and independence, difficulties thinking and...

Retinal Dystrophy in Ciliopathies (RDCilia): modelling patient mutations to decipher disease mechanisms, interpret Variants of Uncertain Significance, and uncover therapeutics

Retinal dystrophies (RD) are inherited disorders characterised by degeneration of light sensing retinal cells (photoreceptors). Affecting approximately 2 million people worldwide, RD causes chronic and gradual sight loss. A major research issue is that RD is rarely investigated in the context of the gene mutations found in patients....

Long non-coding RNAs: regulators of epileptogenesis and potential targets for therapy

Temporal lobe epilepsy is the most common type of epilepsy in adults, with seizures being the major symptom although individuals with this disease may also have anxiety, depression and/or memory disturbances as a result of their condition. Temporal lobe epilepsy is very difficult to treat and about 30% of individuals with this type of...

Predicting and monitoring outcomes in Autoimmune Encephalitis (POTA)

Epilepsy is a disorder of the brain in which people have repeated seizures. 

Autoimmune encephalitis (AE) is a rare cause of epilepsy. It is an inflammatory disease of the brain. This means that the body’s own immune system attacks healthy brain tissue, just like it would if it were infected by a virus or a bacteria, by...

Combining HDAC6 inhibitors with KRAS inhibitors for the treatment of Non-Small Cell Lung Cancer (NSCLC)

In Europe lung cancer is the second most common cancer in men and the third most common cancer in women. Globally, lung cancer contributes to more cancer deaths than any other type of cancer. While we have witnessed some improvements for lung cancer patients, the outcomes and treatment options for the majority remains poor. One...

Pathways to Improving Transition to Adult Services & Enhancing Self-Management in Adolescents with Cystic Fibrosis: A New Era of Treatments

The teenage years are a time of change. Being an adolescent with Cystic Fibrosis (CF) can bring additional challenges due to complex and demanding treatments. A key task for teenagers with CF is to learn the skills to manage their health, as they prepare to transition into adult-based care. In Ireland, many adolescents transition to...

Evaluation of a novel drug combination treatment for nephropathic cystinosis in a new cystinotic rat model.

Cystinosis is a rare disease that results in the build-up of cystine in all cells of the body. Cystine is a protein building block and normally the excess is moved out of cells. In cystinosis the transporter for cystine does not work and cystine builds up inside the cells and forms crystals which cause damage to all organs and...

Investigating the potential of CTNS-mRNA loaded nanoparticles as a new therapeutic strategy for nephropathic cystinosis.

Cystinosis is a rare disease that results in the build-up of cystine in all cells of the body. Cystine is a building block of proteins and normally the excess is moved out of cells. In cystinosis, the transporter for cystine is deficient and cystine builds up inside cells. It forms crystals which cause damage and eventually...

Participation in physical activity: what really matters to adolescents with physical disability?

Being physically active is hugely important for health. It improves physical and mental wellbeing and reduces the risk of health problems in adulthood. Young people with physical disability, especially adolescents, do less physical activity than their peers. We want to learn more about how we can support adolescents with physical...

Sustaining activity with arthritis (SAWA) following an Arthritis Ireland Be active with arthritis (BAWA) exercise programme

Best practice guidelines across the world always recommend those living with arthritis to be physically active. Research shows that being active can help people living with arthritis to do the things that they want to do for longer, reduce pain, improve quality of life and protect against getting other health conditions such as heart...

Counting the cost: The contribution of older carers in Ireland and impact of caring on mental health and wellbeing of carers

Family caring plays an essential role in Ireland’s health system, but it does place social, financial, physical, and emotional demands on carers. Caring by older people has been shown to have benefits for health and longevity when providing lower numbers of hours of care. Less is known about why some carers seem to manage better than...

Patient-led development of a “Patient Reported Outcomes” instrument to improve health-related quality of life in patients with Glomerular Disease – PRO-GD

Glomerular diseases (GDs) are rare kidney diseases that damage kidney filters (glomeruli) and can result in kidney failure, hospitalisation, and death. Glomerular diseases also affect health-related quality of life (HRQOL), including reduced ability to participate in normal life, fear or anxiety about the future, low mood, or eroded...

An investigation into the prevalence and experience of psychopathology and mental disorders among children and adolescents with cerebral palsy

Cerebral palsy (CP) is the most common cause of physical disability in childhood. Most people with CP live well into adulthood. Although CP primarily affects a person’s ability to sit or move, many people with CP report experiencing mental health problems. Children and adolescents with CP who experience mental health problems are more...

Advanced, automated compound screening for the identification of therapeutic agents in Multiple Sulfatase Deficiency.

Multiple Sulfatase Deficiency (MSD) is an extremely rare, fatal, yet untreatable condition. It is caused by the inherited deficiency of an enzyme (called FGE) that activates a whole family of 17 other cellular enzymes named sulfatases. Sulfatases are indispensable for the degradation of a subset of intracellular molecules. Thus,...