Gianpiero Cavalleri is Associate Professor of Human Genetics, Deputy Director of the SFI FutureNeuro Research Centre and Director of the Human Genetic Variation Research Group, one of the largest human genetics research groups in Ireland. Prof. Cavalleri is also Deputy Director of the School of Postgraduate Studies at RCSI. Gianpiero received his Ph.D. in human genetics at University College London in 2006. Prior to his arrival at RCSI, he worked at the Institute for Genome Science and Policy at Duke University, North Carolina. He was appointed to faculty at RCSI in 2008. Prof. Cavalleri has published over 100 articles in leading peer reviewed international journals including Nature, Nature Genetics, PNAS and the New England Journal of Medicine. A feature of his research is its diversity, and his research group works at the interface of computational biology, clinical research and human evolution.
Katherine (Katie) is currently using next generation sequencing technologies to improve understanding of how genomic testing can help improve diagnostics and patient outcomes. She previously completed a PhD in Queen’s University Belfast, UK in 2017 after which she joined RCSI. Katie is interested particularly in renal disease genomics and is currently completing a project utilizing genomic sequencing to better understand hereditary renal disease in Ireland in a collaboration with Beaumont Hospital, the National Centre for Kidney Transplantation. Katie also works as part of the Epilepsy Lighthouse Project to integrate genomic sequencing data into the electronic health records for adult and pediatric epilepsy clinics in Ireland.
Tania is interested in the genetic basis of the epilepsies, encephalitis and other neurological diseases. She completed her PhD in Medical Science (2015) and a Post-doct (2017) at the University of Campinas (UNICAMP) /Brazil, where she worked with arrays and various sequencing platforms. Within the Human Genome Variation Group, Tania is exploring rare variation across the mitochondrial genome in the context of epilepsy. She is also exploring the performance of imputation in the Brazilian population.
Rob is a graduate of DCU (BSc Genetics and Cell Biology) and NUI Maynooth (PhD Bioinformatics and Molecular Evolution) and has collaborated with Queen’s University Belfast and the University of Bristol. He is the resident bioinformatician for Professor Cavalleri's research group and is partnered with Congenica as a member of the FutureNeuro Research Centre. Rob's interests revolve around the generation and processing of next generation sequencing (NGS) data in order to address complex biological disorders. These include mapping de-novo pathogenic mutations arising in the genomes of patients with epileptic encephalopathy (severe early onset epilepsy), searching for a link between the somatic mutations occurring within the brain tissue of patients suffering from cortical dysplasia and the congenital abnormality itself, assigning human phenotype ontologies (HPO) to genetic mutations related to neurological diseases, and incorporating the Irish Electronic Patient Record (EPR) into Congenica's clinical genomics analysis software: Sapientia - with the aim of improving its diagnostic power for clinicians.
Nisha has postgraduate degrees in Molecular medicine (Trinity College) and in Biotechnology (Bharathiar University) has more than 5 years of experience as a Cytogenetic Technologist. She is skilled in culturing, banding and karyotyping of cells derived from human peripheral blood lymphocytes, bone marrow, amniocytes, fibroblast and chorionic villus sampling and DNA microarray. Currently she works as a part of the FutureNeuro Programme, where she is providing technical support for DNA library preparation and Next Generation Sequencing
Gillian provides administrative support to the HGVR team, ensure our research activities can proceed smoothly.
Austin is currently working in the group as an epilepsy genomics clinical researcher. He has about 8 years’ experience working in clinical settings and holds postgraduate qualifications in psychology, and in clinical neuroscience.
Edmund is interested in the genetic structure and diversity in the Irish population. He has previously studied Biochemistry and Genetics (MSci) in the University of Nottingham, UK, and moved to Ireland to study for a PhD in Jan 2015. By utilising the Irish DNA Atlas, a cohort of individuals with ancestry from specific regions in Ireland; Edmund is studying the impact of human population structure and past migrations on the genetic landscape of Ireland, revealing groups of genetically related individuals with ancestries from similar regions across Ireland. In addition, Edmund is also currently investigating the population genetics within Irish Travellers, an isolated Irish-ancestry population predominantly found within Ireland. He is interested in the genetic structure within this population, and how this can be leveraged to study the genetic history and the genetics of disease within the Irish Travellers.
Caragh is a PhD student in the Human Genetic Variation Group with particular interest in predicting risk of disease and transplant-related outcomes using genetic markers. She received a BA in Genetics from Trinity College Dublin shortly before joining the Human Genetic Variation Group in 2014. Her PhD investigates the role of genetic variation in renal disease and transplant outcomes. Increasing evidence has indicated the influence of genetic variation on both end stage kidney disease and transplant outcomes. Her work examines the impact of different forms of genetic variation on transplant outcomes and complications including kidney graft function and post-transplant malignancy. A variety of techniques are used in these analyses to examine the different ways common genetic variation can predict disease risk - including genome-wide association studies, pathway analysis, polygenic risk analyses and shared-ancestry analyses. Caragh is also investigating a common form of end-stage kidney disease, IgA nephropathy. For this analysis, an exome sequencing approach is used to decipher whether rare genetic variants predispose disease risk in families with IgA nephropathy.
Ciarán is studying the genetic basis of psychiatric issues in epilepsy. People with epilepsy are at an increased risk for a variety of psychiatric conditions such as depression, psychosis and schizophrenia. Despite this, the genetic contribution to these comorbidities remains largely unexplored. Through the use of analytical techniques such as polygenic risk scoring Ciarán is seeking to determine if previously identified risk variants for a variety of psychiatric conditions are enriched in epilepsy patients who have the given psychiatric condition as a co-morbidity. Ciarán is also researching the role of genetic variation in adverse drug reactions to the anti-epileptic drug levetiracetam. Roughly 13% of patients prescribed levetiracetam experience psychosis or behavioural disorders in response to drug treatment. Through the use of exome sequencing, as well as GWAS and polygenic risk score analysis on patients who experience behavioural and psychotic side-effects to levetiracetam, he is aiming to explore the role of both rare and common genetic variation in these adverse drug reactions. This research will hopefully be useful in the future for personalising epilepsy patients’ treatments.
Gianpiero Cavalleri Associate Professor of Human Genetics
Gianpiero Cavalleri is Associate Professor of Human Genetics, Deputy Director of the SFI FutureNeuro Research Centre and Director of the Human Genetic Variation Research Group, one of the largest human genetics research groups in Ireland. Prof. Cavalleri is also Deputy Director of the School of Postgraduate Studies at RCSI. Gianpiero received his Ph.D. in human genetics at University College London in 2006. Prior to his arrival at RCSI, he wor More...
E-mail: gcavalleri@rcsi.ie Link to Profile


Dr Katherine Benson Postdoctoral Researcher
Katherine (Katie) is currently using next generation sequencing technologies to improve understanding of how genomic testing can help improve diagnostics and patient outcomes. She previously completed a PhD in Queen’s University Belfast, UK in 2017 after which she joined RCSI. Katie is interested particularly in renal disease genomics and is currently completing a project utilizing genomic sequencing to better understand hereditary renal disease More...
E-mail: katherinebenson@rcsi.ie Link to Profile


Dr Tania Kawasaki Postdoctoral Researcher
Tania is interested in the genetic basis of the epilepsies, encephalitis and other neurological diseases. She completed her PhD in Medical Science (2015) and a Post-doct (2017) at the University of Campinas (UNICAMP) /Brazil, where she worked with arrays and various sequencing platforms. Within the Human Genome Variation Group, Tania is exploring rare variation across the mitochondrial genome in the context of epilepsy. She is also exploring the More...
E-mail: taniakawasaki@rcsi.ie Link to Profile


Dr Robert Carton Postdoctoral Researcher
Rob is a graduate of DCU (BSc Genetics and Cell Biology) and NUI Maynooth (PhD Bioinformatics and Molecular Evolution) and has collaborated with Queen’s University Belfast and the University of Bristol. He is the resident bioinformatician for Professor Cavalleri's research group and is partnered with Congenica as a member of the FutureNeuro Research Centre. Rob's interests revolve around the generation and processing of next generation sequencing More...
E-mail: robertcarton@rcsi.ie Link to Profile


Ms Nisha Gangadharan Research Assistant
Nisha has postgraduate degrees in Molecular medicine (Trinity College) and in Biotechnology (Bharathiar University) has more than 5 years of experience as a Cytogenetic Technologist. She is skilled in culturing, banding and karyotyping of cells derived from human peripheral blood lymphocytes, bone marrow, amniocytes, fibroblast and chorionic villus sampling and DNA microarray. Currently she works as a part of the FutureNeuro Programme, where she More...
E-mail: nishaaganga@gmail.com


Dr Marie Greally Clinical Geneticist
E-mail: mariegreally@rcsi.ie


Ms Gillian Murphy Research Assistant
Gillian provides administrative support to the HGVR team, ensure our research activities can proceed smoothly.
E-mail: murphyjill@eircom.net


Mr Austin Lacey Clinical Research Fellow
Austin is currently working in the group as an epilepsy genomics clinical researcher. He has about 8 years’ experience working in clinical settings and holds postgraduate qualifications in psychology, and in clinical neuroscience.
E-mail: austinlacey@rcsi.ie


Edmund Gilbert BSc,MSc
Edmund is interested in the genetic structure and diversity in the Irish population. He has previously studied Biochemistry and Genetics (MSci) in the University of Nottingham, UK, and moved to Ireland to study for a PhD in Jan 2015. By utilising the Irish DNA Atlas, a cohort of individuals with ancestry from specific regions in Ireland; Edmund is studying the impact of human population structure and past migrations on the genetic landscape of I More...
E-mail: ed_gilund@hotmail.co.uk


Caragh Stapleton BA
Caragh is a PhD student in the Human Genetic Variation Group with particular interest in predicting risk of disease and transplant-related outcomes using genetic markers. She received a BA in Genetics from Trinity College Dublin shortly before joining the Human Genetic Variation Group in 2014. Her PhD investigates the role of genetic variation in renal disease and transplant outcomes. Increasing evidence has indicated the influence of genetic va More...
E-mail: caraghstapleton@rcsi.ie


Ciarán Campbell BA
Ciarán is studying the genetic basis of psychiatric issues in epilepsy. People with epilepsy are at an increased risk for a variety of psychiatric conditions such as depression, psychosis and schizophrenia. Despite this, the genetic contribution to these comorbidities remains largely unexplored. Through the use of analytical techniques such as polygenic risk scoring Ciarán is seeking to determine if previously identified risk variants for a varie More...
E-mail: CiaranCampbell@rcsi.ie