The ISHG is run on a voluntary basis by a committee. The committee consists of members from the main third level, research and clinical institutions. The current committee members are below:
Prof Gianpierro Cavalleri
Royal College of Surgeons, Dublin.
Gianpiero Cavalleri is Professor of Human Genetics, Deputy Director of the SFI FutureNeuro Research Centre and Director of the Human Genetic Variation Research Group at RCSI. Prof. Cavalleri is also Deputy Director (Translational Research) of the Office of Research and Innovation at RCSI. His research group works at the interface of computational biology, clinical research and human evolution. Gianpiero is the current President of ISHG, having served as Honorary Secretary between 2016 and 2019.
Mater Misericordiae University Hospital.
Jacqueline has worked for over 20 years as a Genetic Counsellor. She was one of the first students to complete the newly developed Masters course in Genetic Counselling in Manchester, having completed her primary genetics degree in Trinity College Dublin. She is deeply committed to supporting patients find a diagnosis and enabling them to live as fully as possible with a genetic condition. She has been part of several national committees working to build greater awareness and build supports for people affected by genetic disease and their families. For the past 3 years she has been developing a Clinical Genetic Service for Inherited Retinal Disease patients at the Mater Hospital. She is currently chair of the Irish Society of Human Genetics.
Dr Denise Harold
Denise Harold is an Assistant Professor of Human Genomics at Dublin City University. Her research focuses on the genetic epidemiology of complex traits, and aims to identify genetic determinants of Alzheimer’s disease and other chronic age-related disorders.
Dr Tom Moore
Tom Moore trained as a veterinary surgeon in University College Dublin and obtained MSc and PhD degrees from the University of London. He did postdoctoral work at the Babraham Institute, Cambridge, UK. He currently is Director of the BSc Genetics degree at University College Cork. His research interests are predominantly in developmental genetics; specifically, in the areas of maternal – fetal interactions and the genetics of autism.
Dr Michael Salter-Townshend
Social Media Secretary
Michael Salter-Townshend is an Assistant Professor of Statistics in University College Dublin who works on statistical genetics applications.
His current research includes population genetics methodology, admixture modelling, local ancestry methods for identification of genes under selection, methods for detecting homologous recombination enrichment and their potential association with disease via the introduction of deleterious haplotypes.
Dr Deirdre Donnelly
Belfast City Hospital.
Dr Deirdre Donnelly is consultant in the Northern Ireland Regional Genetics Centre, based at Belfast City Hospital. She sees general and cancer genetics patients and has a special interest in the neurocutaneous disorders, running the regional clinics for Tuberous Sclerosis and Neurofibromatosis type 1, and is Genetic lead for the Neurofibromatosis type 2 regional MDT clinic. Additionally, she is Trainee Programme Director for Clinical Genetics in Northern Ireland.
Dr Lara Cassidy
Trinity College Dublin.
Lara Cassidy is an assistant professor at the Department of Genetics, Trinity College Dublin. She was awarded her Ph.D. in ancient genomics in 2018 from the same institution. Her doctoral focus was the application of next generation sequencing technologies to the study of Irish prehistory, which resolved longstanding questions on the genomic origins of the island’s population. She expanded upon this work as a postdoctoral researcher with Prof. Dan Bradley, before starting her own ancient genomics lab in 2020. Her current interests include leveraging Ireland’s insularity and long-term genetic continuity to study the evolutionary forces that have shaped human health and disease; reconstructing prehistoric social structures and cultural practices through patterns of relatedness and inbreeding; optimising ancient DNA data processing and curation to establish best practices in the field from both a research and ethical standpoint.
Dr Stephanie Duguez
Dr Duguez has been committed to neuromuscular research since her PhD at Jean Monnet University on muscle cell metabolism, and Research Fellowship on Limb Girdle Muscular Dystrophy at Genethon (Evry, France). As a Research Associate at Children’s National Medical Center (Washington DC, US), she pioneered exploration of the role of muscle vesicles in neuromuscular disease. Determined to develop this theme further, upon returning to France as a Project Leader at the Institute of Myology (Paris, France), she proposed to extract myoblasts from patient biopsies and characterize their secretory vesicles.
Stephanie joined Northern Ireland Center for Stratified/Personalised Medicine in 2016 and leads Ulster University’s research group on Neuromuscular Health. Her research group at Ulster University is now composed of biologists and bioinformaticians and explores the intercellular communication between muscle tissue and surrounding cells, including motor neurons, inflammatory cells and fibroblasts. They are using human muscle stem cells and studying the secretome profiles by different OMICS approaches such as proteomic, metabolomic, and transcriptomic analyses. The aim is to decipher the role of intercellular communication in different physiological and neuromuscular pathological conditions.
Dr Brónagh Ó hIci
CHI at Crumlin.
Dr Brónagh Ó hIcí is a senior clinical scientist working in the molecular genetics laboratory in the Dept of Clinical Genetics in Children’s Health Ireland at Crumlin. A graduate for the National University of Ireland, Galway. I have an special interest in imprinting disorders and prenatal diagnostic testing.
Dr Derek Morris
Derek Morris is a geneticist and his area of expertise is the identification of risk genes for psychiatric disorders. He is Programme Director for the BSc. in Genetics and Genomics in NUI Galway and is a former President of ISHG (2014-16).
Dr James O’Byrne
Mater Misericordiae University Hospital.
Dr James O’Byrne is a consultant Metabolic Physician and Consultant Clinical Geneticist based in the Adult Metabolic Unit at the Mater Misericordiae University Hospital (MMUH) and Associative Clinical Professor in the School of Medicine, University College Dublin.
His special interests include the organelle diseases; Lysosomal Storage and Peroxisomal Disorders and the development and application of gene specific treatments or precision medicine within this field. He is the Principal Investigator in Ireland on a phase 3 clinical trial for a novel therapy for Fabry Disease.
He holds a PhD from the Karolinska Institute, Stockholm in Peroxisomal Disorders and Fatty Acid/ Bile Acid Metabolism and completed a fellowship at British Columbia Children’s Hospital and Vancouver General Hospital, working with patients with treatable genetic disorders that result in intellectual disability.
Working as a Consultant Clinical Geneticist Dr O’Byrne also supports the development of genetic initiatives across a number of specialties including ophthalmology, cardiology, neurology and oncology at the Mater Hospital.
Dr O’Byrne graduated from Medical School in Trinity College Dublin (TCD), attained Certificate of Satisfactory Completion of Specialist Training in Clinical/Biochemical Genetics from the Royal College of Physicians of Ireland (RCPI) and holds a membership examination in paediatrics from RCPI and a basic science degree in Biochemistry from TCD.
Dr O’Byrne is a council member of the Irish Society of Human Genetics and member of the European Society of Human Genetics Education Committee. He has a deep interest in education, lectures in the fields of Metabolic Medicine, Clinical Genetics/Genomics and Rare Diseases and is director of the new ESHG course entitled Precision Medicine: A Focus on Clinical Utility due to start in 2022.
Dr Lisa Bradley
CHI at Crumlin.
Lisa Bradley is a Consultant Clinical Geneticist at Our Lady’s Children’s Hospital Crumlin, Dublin 12. She graduated with a B.A. (Mod) in Genetics from the University of Dublin, Trinity College and with a MB, BCh, BAO, LRCP & SI from the Royal College of Surgeons, Ireland. She has completed an M.Sc in Molecular Medicine and obtained her M.R.C.P.I in Paeds. She completed speciality training in Clinical Genetics at the N.Ireland Regional Genetics Service, Belfast City Hospital. She previously held a consultant post at St Georges NHS Healthcare Trust, South West Thames Regional Genetics Service, London before returning to Dublin to her present post.
Dr Lorna Lopez
Lorna is an Associate Professor at Maynooth University and the Principal Investigator of the Family Genomics Research Group. Since her PhD, she has worked in the field of psychiatric genetics and is advancing biological psychiatric research. Her current work has a focus on the genomic basis of psychiatric conditions and associated traits. Her research expertise range from genomic, proteomic and molecular biological approaches, in family and population-based studies.
Lorna is an awardee of a European Research Council Starting Grant, Science Foundation Ireland (SFI) Early Career Researcher of the Year 2020 and SFI Starting Investigator Grant. In addition, she has obtained support from the AXA Research Fund, Health Research Board and The Wellcome Trust for past and upcoming research.
Dr Therese Murphy
Technological University Dublin.
After completing a Health Research Board 4-Year PhD at Trinity College Dublin I was awarded a Craig-Dobbin Newman Postdoctoral Fellowship in Mental Health Research by University College Dublin. In 2013, I joined Professor Jonathan Mill’s Complex Disease Epigenetics Group at the University of Exeter as a Research Fellow. In 2015, I was appointed Lecturer in Biomedical Science at the University of Exeter Medical School and started an independent research programme examining the role of epigenetic mechanisms in Major Depression and Suicidal Behaviour. In autumn 2018, I returned to Ireland I took up the position of Lecturer at the School of Biological and Health Sciences, Technological University Dublin.
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