Detailed description of a selection of Research Projects
Professor Mark Ian Rees
Genetic Basis of Familial Epilepsy.
Funding: UCB Pharma Ltd.
Update: - The Wales Epilepsy Research Network (WERN) has collected over 120 families with epilepsy and migraine. These families have allowed us to find new susceptibility genes for epilepsy by applying a new technology called next-generation gene sequencing (exomes and genomes) in 13 large WERN families; we have also found five of the WERN families have mutations in known epilepsy genes and this is a diagnostic benefit for family members. A further 26 medium-sized families have entered the international Epi4K epilepsy consortium based in the Universities of Columbia, Melbourne and Montreal. The epilepsy team at Swansea is the second highest recruiter for the families project and a hence a leading international centre. The Epi4k consortium will analyse more than 4,000 genomes, utilizing the most modern genetic techniques. It looks for new genes, or changes within genes, which will point toward specific brain pathways that can be targeted for the development of new drug treatments for patients with epilepsy and ultimately allow tailored treatments for an individual patients' epilepsy.
Mr Dean Harries
Raman Spectroscopy: towards early diagnosis in colorectal cancer.
Funding: St David’s Medical Foundation Seed-Corn Grant 2013-2014.
Update: Colorectal cancer often presents at an advanced stage despite minimal symptoms. The aim of the research was to develop a minimally invasive test to detect the presence of colorectal cancer markers based on the scientific principle of Raman spectroscopy. The research is being conducted in conjunction with the Centre for Nano Health in Swansea University and the St David’s Medical Foundation funding has been used to optimise the nanoparticle: antibody pairing prior to clinical application. The Seed-Corn support has led to a £99k three year PhD grant award from Cancer Research Wales to develop the application of this novel diagnostic method, which will also be able to detect recurrent disease at very early stages and plan early rescue treatments.
Dr Owain Howell
Cortical demyelination, meningeal inflammation and epilepsy in early Multiple Sclerosis.
Funding: St David’s Medical Foundation Seed-Corn Grants 2013-2014 and 2014-2015.
Multiple sclerosis (MS) is the most common disabling neurological disease of midlife with a typical age of onset of 30 years. People with MS can experience a rapidly worsening condition marked by substantial disability, a poor quality of life and an early death. As yet, it is not possible to predict how rapidly someone’s MS will evolve. We have shown that damage to the brains cortical grey matter (the wrinkled structure on our brains surface) is associated with inflammation of the meninges, which cover the brain. Our work has focussed on the immune-mechanisms driving brain injury and have gathered novel findings on how the innate immune system is key to this type of pathology. Moreover multiple sclerosis patients can suffer from seizures and we are searching for biological markers for such complications. This work could also open the way for the use of new drugs that are effective in controlling brain inflammation for use in patients with drug resistant epilepsy.
Dr Jeff Davies
Ghrelin and Neuronal Development.
Funding: Waterloo Foundation.
Can stomach hormones be used to develop a therapy for human Parkinson's Disease?
Funding: St David’s Medical Foundation Seed-Corn Grant 2013-2014.
We are testing the hypothesis that the stomach hormone, ghrelin, and ghrelin-like drugs, protect human nerve cells that are lost in Parkinson’s Disease, the second most common degenerative brain disorder and for which there is no treatment available to stop the progressive nerve cell loss. An effective therapeutic is urgently required. We have shown that the stomach hormone, ghrelin, protects dopamine neurones in rodent in-vitro and in-vivo toxin models of Parkinson’s Disease, thereby identifying a key mechanism linking energy balance with brain function. Our ongoing work is to delineate the changes in the cell that explain this beneficial effect - and already we have found that one of the cell’s energy sensors is activated by the hormone. This work has been presented British Neuroscience Association meeting in Edinburgh. We have also published initial findings that ghrelin triggers neural stem cells to become neurones in the adult brain and that this results in improved memory function (Kent et al.2015): http://www.psyneuen-journal.com/article/S0306-4530(14)00399-0/abstract.
Stella Elliott and David Laws
Eyecare in Gambia.
Funding: Vision 2000.
The Ophthalmology Department of ABMU University Health Board is linked with the Sheikh Zayed Regional Eye Care Centre. This Centre is the apex institution for eye disease in The Gambia and six West African countries within the Peace for Health initiative. Our Link provides clinical education, training and skills transfer. It provides training and education to the staff of Sheikh Zayed Regional Eye Care Centre and follows three yearly activity cycles with two visits annually to Gambia (or one visit to Gambia and a visit to Singleton by the Gambia team). Outcomes of the project include - a paediatric service to treat avoidable blindness; a Glaucoma clinic; and medical engineer support for repair and servicing of equipment; provision of electronic notebook to facilitate email access for discussing problems; theatre training; infection control; sharps disposal; waste disposal; safe practice; role of scrub nurse; anaesthetic training and support nurse administration.
Professor Adrian Evans
Clotting Studies in Strokes and in sepsis (major infection)
Funding: Donation provided by the family of Dr W.T. and Mrs M.J.Edwards, Swansea.
This research is developing at new techniques to help diagnose those patients at risk of stroke much earlier and examine how sepsis promotes blood clotting. It will also look at the effectiveness of current treatment and how to improve therapeutic intervention and clinical outcome. The funding has allowed three young outstanding researchers to undertake, complete and submit excellent PhDs, two of which were specifically related to stroke and vascular disease: - Sophia Stanford – research into stroke and vascular disease; Dr Ahmed Sabra – research into cardiovascular clotting disease; Dr Gareth Davies – research into sepsis and vascular disease. Important progress has been made in devising methods for defining clot microstructure and demonstrating that change in clot microstructure is a precise and valuable tool for predicting risk of thrombosis and for monitoring outcomes of anticoagulant treatments. Dr Ahmed Sabra was awarded the Royal College of Emergency Medicine Maurice Ellis Scholar award for pioneering work in the field of Emergency Medicine allowing him to spend four weeks in the world renowned laboratories of Professor John Weisel at the University of Pennsylvania, where he learnt imaging techniques in investigating blood clots in strokes, critically ill patients and those with heart disease. This progress has enabled us to secure further funding of £2.7million to take our research programme to the next phase.
Dr Karl Hawkins
Evaluation of Haemolysis and Thrombosis in a Fully Implantable Artificial Heart Pump
Funding: Haemair and Calon-Cardio Technology Ltd.
Acute heart failure is a common cause of admission to hospital (over 67,000 admissions in England and Wales per year) and is the leading cause of hospital admission in people 65 years or older in the UK (Source: NICE). Novel devices such as implantable Ventricular Assist Devices (VAD) can, through pumping blood, support patients recovering from heart failure - but can often be associated with complications such as thrombosis. This project involves experimental evaluation into different VAD designs in order to minimise the risk of unwanted blood clots. The project has helped understand how different levels of shear stress and flow regimes leads to damage or activation of specific components of blood, such as platelet activation, haemolysis (rupture of red cells) and coagulation. Furthermore, the project is aiding the selection of advanced materials which show enhanced biocompatibility in terms of decreasing the likelihood of adverse cardiovascular events.