Academic Staff
Professor Louise Burke, MD, FRCPath, FRCPI(Path)
Head of UCC Department of Pathology
Professor of Pathology/Consultant Histopathologist
Contact Details
Email: louise.burke@ucc.ie
Professor Louise Burke is the Professor of Pathology, University College Cork / Consultant Histopathologist, Cork University Hospital, Cork, Ireland and Past Dean of the Faculty of Pathology, RCPI. Prof. Burke obtained both her primary medical degree and medical Doctorate (MD) from the National University of Ireland (NUI), Galway, attained her FRCPath, UK , and completed fellowship training in Pulmonary and Mediastinal Pathology at the Armed Forces Institute of Pathology in Washington, DC, USA, incorporating her doctoral research on Non-Small Cell Lung Cancer at the Laboratory of Human Carcinogenesis, National Institutes of Health, Bethesda, Maryland. Following further pathology training at the University of Maryland, Baltimore, USA, and further training on mesothelial lesions in France with the Chairperson of the French and International Mesothelioma Panel, Prof. Burke now leads the Thoracic Histopathology & Molecular Service at CUH and is Head of the Academic Department of Pathology, UCC. Expansion of pathology related activities key to enabling enhanced research collaborative links between clinical, diagnostic, research and academic activities in the region, including those closely aligned to Thoracic Pathology, are key research related workstreams. Expansion of molecular diagnostics and digital pathology services in collaboration with the Department of Pathology, CUH is a keen strategic workstream as well as enhancement of Biobanking activities.
Professor Patrick Stapleton, MB BAO BCh PhD FRCPI FRCPath
Professor of Medical Microbiology, University College Cork. Consultant Microbiologist, Cork University Hospital
Contact Details
- T: 00-353-21-4901244
- E: pstapleton@ucc.ie
Professor Patrick Stapleton is a Professor of Medical Microbiology at University College Cork and a Consultant Microbiologist at Cork University Hospital. He obtained a primary medical degree with first class honours from Ollscoil na Gaillimhe / University of Galway, graduating first in his class. His subsequent doctoral research there was co-supervised from the University of Toronto and focused on understanding the transmission of human respiratory pathogens using whole genome sequencing.
Professor Stapleton completed basic specialist training in medicine and higher specialist training in microbiology in Ireland. This was followed by clinical and research fellowships in Medical Microbiology at the University of Toronto and the Hospital for Sick Children in Ontario, Canada, supported respectively by a Dr. Richard Steevens Scholarship award from the HSE NDTP and a Jennifer and Robert Sturgess Research Fellowship Award from Cystic Fibrosis Canada.
He has held various leadership roles since returning to Ireland shortly before the onset of the Covid-19 pandemic, including serving as a Consultant Lead for the Covid-19 response at University Hospital Limerick and contributing to national health initiatives such as the National SARS-CoV-2 Whole Genome Sequencing and Surveillance Program, HIQA Covid-19 Expert Advisory Group, Severe Acute Respiratory Illness Surveillance Program and the National Irish Covid-19 Biobank.
His research focuses on the application of genome sequencing in clinical microbiology, particularly in the investigation of respiratory pathogens and supporting outbreak. Professor Stapleton is actively involved in teaching and mentoring, delivering lectures and supervising research projects for undergraduate and postgraduate students. He is committed to advancing the field of medical microbiology through his roles in education, research, and clinical practice.
Dr Collette Hand
Senior Lecturer
Contact
Department of Pathology
University College Cork
Cork
Ireland
T:00-353-21-490-1293
Biography
BSc Microbiology, UCC 1994.
PhD Human Molecular Genetics, UCD 1998.
Postdoctoral Research McGill University, Canada, 1998-2002
Lecturer UCC Department of Pathology 2002 - present
Research Interests
Human genetic disease gene mapping.
Disorders of interest include Restless Legs Syndrome (RLS), Hereditary Spastic Paraparesis (HSP), Familial Migraine and Periodic Paralysis. My research focus is the genetic investigation of a variety of conditions and focuses on the mapping and identification of human disease genes through the study of families affected by disease. One of the main challenges of this approach is the collection of suitably large families with affected individuals for study. Strong collaborations with clinical colleagues are vital.
Identification of novel genes I have been involved in the identification of the causative genes for a number of disorders. We described the gene responsible for a juvenile form of familial amyotrophic lateral sclerosis (ALS) / Motor Neurone Disease (MND) which is a devastating neurodegenerative disorder. I was also involved in the studies to establish the gene responsible for hidrotic ectodermal dysplasia (HED), an autosomal dominant skin disorder characterised by palmoplantar hyperkeratosis, hair defects (from partial to total alopecia), nail hypoplasia and nail deformities. HED occurs worldwide with a very low frequency, but is more common in French-Canadians and so the known founder effect was exploited to identify the causative gene in this and other populations.
Identification of novel loci I have been involved in the identification of novel loci for a number of conditions including congenital hereditary endothelial dystrophy (CHED2) which is a rare corneal disorder, a familial ALS locus (ALS3) and a spastic ataxia locus (SAX1). We have identified a novel locus of autosomal dominant restless legs syndrome (RLS) which is the first report in an Irish family.
Identification of novel mutations
Screening genes for mutations allows the identification of novel mutations which expand the understanding of the disease mechanism and may allow for genotype- phenotype correlations to be developed. This approach has been applied to a number of conditions including familial migraine (ATP1A2 gene), retinitis pigmentosa (RPGR gene), amyotrophic lateral sclerosis (SOD1, ALS2 genes) and hereditary spastic paraparesis (ALS2, PLP, SPG4 genes).
Confirmation of diagnosis via gene screening
A number of disorders benefit from the detection of a genetic mutation to confirm or support clinical diagnosis. I have recently identified the causative mutation in the first Irish case of Andersen Tawil Syndrome, a rare neurological disorder with a significant cardiac risk in patients. We have also detected the responsible mutation in the first Irish case of Chorea-Acanthocytosis (ChAc), another inherited neurological disorder. Other Disorders I have been involved in studies of the genetic basis of pain response in individuals.I have established studies on the genetics of the ion channel disorder periodic paralyses through strong clinical collaboration. We have undertaken a study to identify the causative mutation in a large Irish family with members affected by Myofibrillar myopathy, a rare neuromuscular disorder with extensive genetic heterogeneity.
Cancer genetics
More recently, I have established studies on the genetics of specific types of cancer including melanoma, a common skin cancer and glioma, a subtype of brain tumour. In melanoma we are establishing the range and frequency of common gene mutations in tumours as the Irish profile is different from other countries and influences treatment. In glioma we are exploring the retinoic acid pathway to identify factors controlling cell growth which may be exploited to reduce tumour growth and progression. Introduction of Next Generation Sequencing (NGS) into diagnostic clinical setting within Cork University Hospital for the diagnosis and direction of treatment of lung cancer. Study of death certification during the Covid-19 pandemic study.
Expertise
Molecular genetics including genomic DNA extraction from a variety of sources, PCR amplification, fragment analysis, DNA sequencing (Sanger) and bioinformatics. Whole exome sequence (WES) analysis and Next Generation Sequencing (NGS).
Dr Beth Brint
Senior Lecturer
Department of Pathology
University College Cork
Cork
Ireland
T: +353-21-490-3000
E: e.brint@ucc.ie
Beth Brint is a Senior Lecturer in the Pathology Department, UCC, Funded Investigator in APC Microbiome Ireland, Faculty member of CancerResearch@UCC, currently a Health Research Board funded investigator and previously a Science Foundation Ireland funded Investigator. Beth completed her BSc (Hons) in Biochemistry at the University of Sussex, England. She subsequently undertook a PhD in the Biochemistry Department, Trinity College Dublin investigating molecular mechanism regulating the inflammatory/immune response. She developed her expertise in regulation of immune signalling by performing postdoctoral studies jointly between Trinity College Dublin and Xoma Ltd, a San Francisco based pharmaceutical company.
She subsequently moved to University College Cork to take up a senior postdoctoral position in APC Microbiome Ireland (APC), successfully obtaining a postdoctoral research fellowship from the Health Research Board, Ireland for this work. In 2008 she competitively obtained a tenured position at UCC as a Lecturer in Pathology. She teaches students across many programmes including undergraduate medicine and dentistry, graduate entry medicine, BSc in Biomedical Science, BSc in Medical and Health Sciences and the MSc in Cell and Molecular Biology. She has been Year 1 co-ordinator for University College Cork’s flagship Graduate Entry to Medicine programme since 2018.
Research in Beth’s laboratory focuses on innate immune responses, with a particular emphasis on the regulation and function of innate immunity in the gastrointestinal tract in both health and disease. Of particular relevance to her group are inflammatory receptor families (Toll-Like Receptors; IL-1 family; Death receptors) that contribute to intestinal diseases such as inflammatory bowel diseases and colorectal cancer. This work fits with her roles within both APC Microbiome Ireland and Cancer Research@UCC.
To date she has supervised 20 PhD/MD/MSc by research/MSc minor thesis/postdoctoral researchers to completion and has also supervised numerous summer, visiting and undergraduate students. She has a number of collaborations with academic and clinical partners, has published over 30 peer-reviewed articles, most as senior author, in high impact journals with her work cited >6400 times. She has secured funding for her research from multiple funding sources including charities (Breakthrough Cancer Research) and national funding bodies (Health Research Board/Science Foundation Ireland/Irish Research Council).
Full IRIS Profile: https://research.ucc.ie/profiles/e.brint@ucc.ie
Dr Margaret Bolster
UCC Statutory Lecturer [part-time]
Assistant State Pathologist
Dr Margaret Bolster is a Medical Graduate of Trinity College Dublin.
Her General Pathology training was undertaken in Cork University Hospital.
Specialist training in Forensic Pathology in Edinburgh as Lecture in Forensic Pathology in University of Edinburgh.
Present Positions are;
Lecturer in Forensic Medicine in UCC (part time).
Assistant State Pathologist with the State Pathologist's Office in Dublin.
Run the Coroner's Autopsy Service in Cork and Kerry.
Supervise Final Medical Year Projects when requested.
Involved in training the Junior Hospital Doctors in the Autopsy section of the MRCPath.
Dr Mary Hayes
UCC Statutory Lecturer [part-time]
Dr Hayes obtained her primary medical degree from University College Dublin. She completed initial general medical training at the Mater Hospital Dublin , at the end of which she attained the membership of the Royal College of Physicians (MRCP UK) in 1982. She subsequently commenced her training in Histopathology at both Northwick Park Hospital London and the Royal Postgraduate Medical School Hammersmith Hospital London. She then completed a fellowship in Gynaecological Pathology at the Massachusetts General Hospital Boston. She attained her membership of the Royal College of Pathologists in 1986.
In 1991, Dr Hayes completed additional training in Oral Pathology at Glasgow Dental hospital Scotland and took up her present appointment as Statutory lecturer in Oral Pathology at UCC in 1992. In addition she became a Consultant Histopathologist at Cork University Hospital.
Her research areas included Gynaecological and Oral Pathology.
Dr Hayes is also a fellow of the Royal College of Pathologists UK and a fellow of the Royal College of Physicians Ireland and the Faculty of Pathology.