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(Sleep Research Group and Cystic Fibrosis Research)

Active Cystic Fibrosis Research:
Current research is primarily in the identification of genetic modifier of the CF phenotype including DNA collection and development of large Irish CF clinical database. Irish representative in the European CF Genetic Modifiers Consortium and the International CF Modifier Consortium aiming to carry out Genome Wide Association Study on >20,000 CF patients from around the world.

Additional Active Projects:
Research into the relationship between sweat chloride and CFTR genotype on long term outcomes in cystic fibrosis using US CFF National Registry.

Project looking at CF patient perception of service delivery in SVUH including development, validation and implementation of a CF Quality of Care Questionnaire.

Clinical research. SVUH PI on "Phase III study of VX770 in Cystic Fibrosis"
- completed 2010. Currently Global PI in "Extension study of VX770 in Cystic fibrosis" - including 68 Centers from US/Canada/Australia and Europe.

Active Sleep Research:
The principal interest of the Sleep Research group lies in the impact of obstructive sleep apnoea syndrome (OSAS) on metabolic and cardiovascular health. Of particular interest to us is the capacity of OSAS to generate atherosclerosis, and the interaction of OSAS with obesity. We have previously shown that OSAS can generate pro-atherogenic systemic inflammation via up-regulation of NFκB pathways, and that OSAS and associated intermittent hypoxia have a detrimental effect on endothelial function via inhibition of nitric oxide synthesis.

We have recently sought to directly assess the impact of OSAS on the generation of coronary artery atherosclerosis. Initial results suggest an independent role for OSAS in driving coronary artery disease.

In tandem with this, we have been evaluating the effect of OSAS on the metabolic and cardiovascular health of lean, obese, and severely obese subjects. This research is being performed in collaboration with Prof Donal O’Shea, the Obesity Research group in the ERC, and the Weight Management Clinic in St. Colmcille’s Hospital, Loughlinstown. This work is ongoing.

Parallel in vitro studies are planned to further assess how OSAS and obesity interact. In particular, we aim to discover how intermittent hypoxia influences adipose tissue function, with a particular focus on inflammatory pathways and glucose homeostasis.

Another area of major interest for the group is the interaction of OSAS with chronic obstructive pulmonary disease – the so-called “overlap syndrome”. We are currently enrolling subjects for a major prospective study of this poorly understood condition. We hope our study will allow some important new insights into the metabolic, inflammatory, and clinical effects of the overlap syndrome.

The Sleep Research Group is also involved in pioneering new diagnostic modalities for OSA. At present, the diagnosis of OSA is based on results of inpatient polysomnography, which is time-consuming, expensive, and inconvenient for the patient. In collaboration with BiancaMed, a UCD start-up technology company, we are evaluating the use of a novel, non-contact sensor in the diagnosis of OSA. This is a small, portable device, which sits at the patient’s bedside, and uses ultra-low frequency radio-waves to measure movement and breathing patterns. Initial results suggest it to be a highly effective diagnostic strategy, with further confirmatory studies ongoing. Eventually, we would hope that this technology would allow sleep studies to be carried out in the patient’s home.

Finally, a number of collaborative studies with our colleagues in the Department of Cardiology are planned. These will assess how new therapeutic modalities for sleep apnoea affect outcomes in heart failure patients, and how a diagnosis of OSAS influences nocturnal blood pressure in a population recruited from the hypertension clinic.