Paediatric Neurosciences Research Group
The Paediatric Neurosciences Research Group is made up of research active paediatric neurologists and neuropsychologists from The Royal Hospital for Children, Glasgow. The aim is to support research activity in paediatric neurosciences, including facilitating multicentre studies, supervising postgraduate research students, and working alongside the Children’s Clinical Research Facility.
The neuromuscular team, consisting of Dr Iain Horrocks (PI), Sister Jennifer Dunne (Trial Co-ordinator), Marina Di Marco (Clinical Evaluator), Sarah Brown (Assistant) and Rachel Mochrie (Dietitian), have participated in the FOR-DMD double blinded trial for corticosteriods since 2013 which aims to look at the optimum steroid regime for boys with Duchenne Muscular Dystrophy. This trial is a multicentred world wide trial and the first of its kind. The team have recruited 8 boys to the trial after screening 18. The trial should complete in August 2018. The neuromuscular team have just secured funding for the HUB in Newcastle, to expand the service to cater for more trials within Greater Glasgow and Clyde and will be commencing two further trials for DMD in 2018.
Dr Sameer M Zuberi
Sameer is a Consultant Paediatric Neurologist at the Royal Hospital for Children and Honorary Professor in the University of Glasgow. He graduated in medicine from Edinburgh University and trained in paediatrics and neurology in Edinburgh, Sydney and Glasgow. His clinical and research interests include epilepsy, neurogenetics and neurological sleep disorders. He leads the Paediatric Neurosciences Research Group and is clinical lead of the Glasgow Epilepsy Genetics Service. His other roles include Paediatric Lead for the Glasgow Clinical Research Facility, Editor in Chief of the European Journal of Paediatric Neurology and President of the European Paediatric Neurology Society.
Dr Iain Horrocks
Dr Joe Symonds
Joe graduated from the University of Dundee in 2008 and also has a BSc degree in International Health from the University of Leeds (2007). Joe has been a trainee in paediatrics in Aberdeen, Inverness and Glasgow and is currently registered with the University of Glasgow as a PhD student. His major research interest is in the genetics of childhood onset epilepsies. His current PhD thesis focusses on the clinical utility of genetic diagnostic techniques - including Sanger sequencing, Gene Panel testing, Chromosomal Microarray and Whole Genome Sequencing - for identifying underlying causes of epilepsy and guiding management. He has developed a specific interest in the epilepsy cuased by truncation variants in the SMC1A gene and he has several ongoing projects investigating this gene. He receives research funding support from Glasgow Children's Hospital Charity and Tenovus Scotland.
Symonds JD and Zuberi SM. Genetics update : Monogenetics, polygen disorders and the quest for modifying genes. Neuropharmacology 2017 DOI : 10.1016/j.neuropharm.2017.10.013
Steel D, Symonds JD, Zuberi SM and Brunklaus A. Dravet syndrome and its mimics: Beyond SCN1A. Epilepsia 2017; 58(11):1807-1816 DOI: 10.111/epi.13889
Waak M, Mohammad SS, Coman D, Sinclair K, Silburn P, Coyne T, McGill J, O'Regan M, Selway R, Symonds JD, Grattan-Smith P, Lin JP, Dale RC and Malone S. GNA01-related movement disorder with life-threatening exacerbations - movement phenomenology and response to DBS. JNNP 2018;89(2) :221-222 DOI: 10.1136/jnnp-2017-315653
Symonds JD, Zuberi M and Johnson MR. Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment [review]. Curr.Opin.Neurol. 2017; 30(2): 193-199 DOI:10:1097/WCO.0000000433
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe Ak, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse W, DDD Study and Zuberi SM. Heterozygous truncation mutations of the SMC1A gene cause a severe early-onset epilepsy with cluster seizures in females : Detailed phenotyping of 10 new cases. Epilepsia 2017; 58(4)565-575 DOI:10.1111/epi.13669
Wright CM, Brenmer M, Lip S Symonds JD. Does measurement technique explain the mismatch between European head size and WHO charts. Arch Dis Child 2017;102(7): 643-647 DOI:10.1136/archdischild-2016-311888
Roberts SAF, Symonds JD, Chawla R, Toman E, Bishop J Solanki GA. Positional plagiocephaly following ventriculoperitoneal shunting in neonates and infancy - how serious is it? Childs Nerv.Syst. 2017 33(2):275-280 DOI: 10.1007/s00381-016-3275
Zuberi SM and Symonds JD. Update on diagnosis and management of childhood epilepsies [review]. Jornal de pediatria 2015;91(6 suppl): S67-77 DOI: 10.1016/j.jped.2015.07.003
Marina Di Marco
Marina Di Marco (Dip Phys, MSc, Prof MSc) is the Principal Neuromuscular Physiotherapist and leads the West of Scotland neurmuscular physiotherapy service. She works with both children and adults with progressive muscle wasting disorders and is based in the Queen Elizabeth University Hospital. Marina undertakes both clinical work and education and has an active research remit. She has been the Lead Clinician of the Scottish Muscle Network since 2013.
Dr Daniella Pilz
Daniela Pilz is a Consultant in Medical Genetics at the West of Scotland Genetics Services, Queen Elizabeth Univeristy Hospital, Glasgow. She graduated from Medical School in Hannover, Germany and trained in paediatrics and clinical genetics in the UK. The topic of her MD thesis was "Lissencephaly". She spent two years as a research associate in a molecular laboratory at the University of Chicago in the Department of Human Genetics, working on cortical malformations, specifically the molecular causes of the classical lissencephaly spectrum. Her clinical expertise lies in dysmorphology and paediatric neurogenetics. Daniella continues to be involved in research programmes into causes of cortical brain malformations.
Dr Liam Dorris
Liam Dorris is a Consultant Neuropsychologist at the Royal Hospital for Children, Glasgow and an Honorary Associate Professor at the University of Glasgow. As well as being lead clinician for the NHS paediatric neuropsychology service, Dr Dorris leads a clinical research group looking at cognitive disorders and psychosocial issues in paediatric neurological and neurodevelopmental conditions. Dr Dorris is also affiliated with the Institute of Mental Health and Wellbeing.
Dr Shuko Joseph
Dr Shuko Joseph is a Senior Trainee in Paediatric Neurology with a special interest in neuromuscular disorders in children. She graduated from the University of Glasgow in 2003 and undertook the paediatric training in Edinburgh and Glasgow, prior to commencing her post as a Clinical Academic Neuromuscular Research Fellow in 2015. The PhD research study "ScOT-DMD Secondary Osteoporosis and its Therapy in Duchenne Muscular Dystrophy" investigates the complex pathophysiology of secondary osteoporosis in Scottish boys with Duchenne Muscular Dystrophy (DMD) through the application of bone biomarkers and innovative imaging techniques. The fellowship is funded by the Chief Scientist Office, Muscular Dystrophy UK and Action Duchenne. Shuko is currently involved in research activities with the Glasgow Neuromuscular Research Team and the Developmental Endocrinology Research Team. She has been a Steering Committee member of Scottish Muscle Network since 2015 and is working together to increase the future collaborative translational research capacity in childhood neuromuscular conditions in Scotland.