Alpha-1 is a genetic condition resulting in serious lung and/or liver disease. Alpha One Foundation recently completed a research project funded by the Joint Funding Scheme that changes current thinking in the field of Alpha-1.This research focused on lung disease in Alpha-1 patients – and investigated how the normal function of cells are impaired. The study showed for the first time how the immune response in Alpha-1 patients is exaggerated. These novel findings will form the basis of future Alpha-1 projects.
Around one-third of epilepsy patients have severe epilepsy which is resistant to medication. A recent study explored the role of genes in patients’ responses to drug treatment. Understanding the genetics of drug response offers the potential to tailor treatment to the individual. Epilepsy Ireland carried out this project with The Royal College of Surgeons Ireland in order to build the knowledge base required to provide optimal holistic care to individuals with epilepsy and related disorders.
Irish Cancer Society
Funding from the joint-funding scheme in 2009 allowed researchers in University College Cork to investigate how breast cancer cells break away from a primary tumour and set up secondary tumours. They were the first in Ireland to successfully set up a 3-dimensional model of breast cancer to study how breast cancer cells behave in the body.The team have discovered molecules that give cancer cells an advantage in allowing them to spread quickly. Targeting this action may provide a new therapy to prevent breast cancer spreading to other parts of the body, and save lives.
Fighting Blindness funded research in Trinity college Dublin that discovered the gene responsible for a form of inherited blindness. This has led to gene therpay clinical trials which are currently in progress. “Research funded by Fighting Blindness was absolutely crucial to building the international reputation of The Smurfit Institute of Genetics at Trinity College Dublin. It led to several major discoveries on the genetic causes of blindness.” Prof David McConnell, Head of School of Genetics, Trinity College Dublin.
Cystinosis Foundation Ireland
Cystinosis is a genetic metabolic disease affecting multiple organs and resulting in kidney failure. Since 2005, a research team in UCC has been developing a technique to repair the mutated genes which cause Cystinosis. In January 2009, with a grant received from the Joint Funding Scheme, they started to apply this technique to mutations in the Cystinosis gene. After presenting the preliminary data at a Research Symposium in California in April 2010, the team secured an additional $150K from a US-based Cystinosis charity to extend the research activity. Two teams of researchers are now employed at UCC, leading innovative, internationally-recognised scientific research in this area.
Diabetes Ireland Research Alliance
The estimated in-patient cost of treating preventable diabetic foot disease in Ireland was €239 million between 2005-2009. The West of Ireland Foot Study commenced in July 2008. It was a 3-year research study investigating the prevalence, incidence and cost of diabetes foot problems (ulcers) in the west of Ireland. Training on diabetes foot care was delivered to all participating practices. The study has raised awareness among primary care staff of the importance of diabetes foot screening. Resulting from this study, The School of Podiatry NUI Galway have developed a short course in diabetes foot screening for health care professionals. Model can now be used nationally for the delivery of quality foot care.