BSc Microbiology, UCC 1994PhD Human Molecular Genetics, UCD 1998Postdoctoral Research McGill University, Canada, 1998-2002Lecturer UCC Department of Pathology 2002-2023 Senior Lecturer UCC Department of Pathology 2023-present

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 all

I contribute to teaching and examining medical, dental, biomedical science, medical and health sciences and genetics students. ** indicates module which I co-ordinate UNDERGRADUATE TEACHING Medicine and Dentistry **FM2004 Foundations of Medicine: Mechanisms of Disease **PM3090 Genetic Research in Human Disease Graduate Entry to Medicine GM1001 Fundamentals of Medicine I GM1003 Fundamentals of Medicine III BSc Biomedical Science **BM3001 Cellular Pathology I **BM4007 Cellular Pathology II BM4013 Research Project BSc Genetics GN3002 Literature Project on Genetics GN4002 Research Project BSc Medical and Health Sciences MH1050 Introduction to Translational Medicine **PM2004 Mechanisms of Disease **PM3017 Systems Pathology MH4010 Research Project in Medical and Health Sciences