Bioinformatics, Genetics, Epigenetics, Genomics, Transcriptomics, DNA Methylation, Kidney Disease, Rare Disease, Healthy Ageing, Chronic Diseases, Registries, Renal

Research is focused on genomic factors that influence human disease, in particular multi-omic associations with kidney disease, diseases common in ageing populations, and rare diseases. We conduct studies on candidate genes, prioritised genetic regions, genome-wide and epigenome-wide screens, along with whole exome/genome sequencing with specific emphasis on chromosome Y, telomere, mitochondrial influences.  Data is derived from individuals recruited as part of multi-centre collections and we participate in multiple mega-consortia projects, including developing and evaluating approaches for data integration from diverse sources.  We also launched an international renal genetics initiative, creating the first chromosome-based maps for renal disease and a contributor-driven database for genes and complex chromosome abnormalities consistently demonstrating renal involvement.

Our laboratories are well equipped for genetic studies, including scanners and next generation sequencing machines; we are a next generation sequencing development site.  This enables my team to facilitate projects for many other teams looking at different diseases within and outside QUB.  Whole exome sequencing, whole genome sequencing, RNA-seq and Long Read sequencing for rare and complex disorders, plus bacterial whole genome sequencing are performed.  We are building the NICOLA (https://www.qub.ac.uk/sites/NICOLA/) bioresource, including multi-omic datasets with a focus on older individuals living in NI.  We secured funding and evaluated the implementation of whole genome sequencing for individuals living with rare diseases as part of the NI Genomic Medicine Centre with the complementary development of an online information hub and patient-centred pathways.  Our rare disease research informed the development of the NI rare disease implementation plan (2015) and action plan (2022).  I co-lead two working groups helping deliver the actions noted in our rare disease action plan, with a focus on an information hub, patient portal, registry and care pathways.  We hold several registries and are actively engaged in making maximal use of complex genomic information. 

I decreased my extensive teaching commitment in 2021, having developed and co-ordinated six new modules, as well as several new postgraduate courses, and participating in standard setting, exam boards, progress reviews, and postgraduate research boards.  I have contributed to the curriculum revision of both undergraduate medicine and biomedical sciences degrees across all teaching years.

• Mentoring, Personal and Professional Development Portfolios (2006-present)
• MED1028 Foundations for Practice: Lecture (2020-present)
• MSK2 Public Health Genetics: Lecture (2021-present)
• SCM8102 Genetics for Public Health: Lecture (2020-present)
• TPU3008 Integrated Pharmacology: Lecture (2013-present)
• SCM7044/7025/8098 Medical Statistics: Lecture (2013-present)
• Preparation for Practice for final year medical students: Lecture (2013-present)
• Postgraduate taught modules within SMDBS: coordinate and lecture (2022-)

Previous commitments:

• BMS2103 Cell Biology and Clinical Genetics: I co-developed the genetic component of this year 2 biomedical science module, which was brand new for 2017-2018, co-coordinated the module, and Lecture. Our BSc (Hons) in Biomedical Science Programme has been accredited by the Institute of Biomedical Science (IBMS) for a further five years to 2022 (2018-2020)
• MED1023 Principles of Disease and Treatment, formerly known as MED1013 /MED 1014 Genes, Molecules and Processes Foundations of Clinical Practice 1: Lectures and Tutorials.  I co-developed the genetic component of this module (three times) (2006-2020)
• MED1015: Systems, People and Populations Foundations of Clinical Practice 3; Lecture
• MED1020 Concepts in People and Populations: Lecture (2013-2020)
• MED1021 Student Selected Component: Lectures (2013-2020)
• SCM7048: Genomics and Genetics: Designed, Module Coordinator and Lecture
• SCM7052: Genomics, Cell Biology and Human Disease: Designed, Module Coordinator and Lecture
• SCM8095: Genomics and Human Disease: Designed, Module Coordinator and Lecture.  This module has run across the MRes in Translational Medicine and MSc in Bioinformatics and Computational Biology, which has been shortlisted for the gradireland Higher Education Awards as Postgraduate Course of the Year in Computer Science & Technology  and Postgraduate Course of the Year in Science. (2015-2020)
• SCM8056 Postgraduate Research Induction, Minimising Plagiarism, Differentiation: Co-designed and Lecture (2015-2020)
• SCM8094 Postgraduate Research Management (2018-2020)
• SCM8101 Postgraduate Education Forum (2015-2020)

I was the director of postgraduate education and training for the Centre of Public Health, QUB from 2012-2022 when I was appointed as Director of Postgraduate Research for the School of Medicine, Dentistry and Biomedical Sciences.