Sydney - Westmead Children's Hospital

Clinical Associate Professor Kristi Jones was awarded her medical degree from The University of Sydney in 1990 and completed her specialty training in both paediatrics and clinical genetics. Post-graduate qualifications include Fellowship of the Royal Australasian College of Physicians, Clinical Geneticist (HGSA) and a Doctorate (PhD). Kristi is Clinical Associate Professor at the University of Sydney in both the disciplines of Genetics and Paediatrics, Co-Head of Department and Senior Staff Specialist in Clinical Genetics at The Children's Hospital at Westmead (CHW), and is consultant to the Genea Fertility Preimplantation Genetic Diagnosis program.

Kristi's current research interests stem from her PhD and focus on genetic diagnosis and therapeutic trials for genetic muscle disease. She heads the Neuromuscular Clinical Trials Unit in the Kids Neuroscience Centre at CHW. Kristi is Medical Director on the board at Muscular Dystrophy NSW.

Dr Webster is a paediatric neurologist with an interest in neurogenetic, neurocognitive and neuromuscular disorders. After completing his neurology training he undertook research at the Montreal Children’s Hospital and the Montreal Neurological Institute investigating developmental and functional outcomes in neurodevelopmental disorders. Richard is particularly interested in the impact of neurological disease on a child’s development. Richard is the author of 72 peer reviewed articles and two book chapters. His current research relates to the biology and management of PNPO deficiency and clinical trials in neuromuscular disease.   Richard has been a paediatric neurologist within the Neurology department at the Children’s Hospital at Westmead since 2004 and is currently Head of Department. He has been part of the Neurogenetics service at the Children’s Hospital since 2007 and is a member of the Kids Neuroscience Centre. He was previously the Chief Executive Officer of the Australia and Zealand Child Neurology Society.

Dr Manoj Menezes is a paediatric neurologist with a clinical and research focus on neuromuscular disorders and inherited peripheral neuropathy in childhood. He is the current President of the Australia and New Zealand Child Neurology Society. He runs the Peripheral Neuropathy Service at The Children’s Hospital at Sydney which includes the Peripheral Neuropathy Diagnostic and Management Clinics and neurophysiology services. His interests include identifying therapies to more effectively treat children with Charcot-Marie-Tooth disease (CMT) with Brown-Vialetto-Van Laere syndrome, a severe inherited neurodegenerative neuropathy that responds to treatment with riboflavin. His neuromuscular training includes a neuromuscular fellowship at The Children’s Hospital at Westmead, a Churchill Fellowship to undertake a fellowship in inherited neuropathy at The National Hospital of Neurology and Neurosurgery at Queen Square, London and a PhD in inherited neuropathies through The University of Sydney.​

Dr Michelle Lorentzos completed her specialist training in Paediatric Neurology at The Children’s Hospital at Westmead after completing her medical degree at The University of Sydney in 2007. Prior to undertaking her medical studies, Michelle obtained a Communications degree at The University of Technology, Sydney. As a paediatric neurologist, Michelle is committed to advancing patient care through clinical research. Her PhD contributed to an improved understanding of psychological conditions experienced by children and young people with neurological disorders. Michelle is a Staff Specialist in Neuromuscular Clinical Trials and a Principal Investigator on several current trials. She is excited about the opportunities created by emerging advanced therapeutics in neuromuscular disease.

Dr Esther Tantsis is a neurologist experienced in the early detection of cerebral palsy. She is the medical lead on a multi-disciplinary cerebral palsy early diagnosis clinic which has been in operation for the last 2.5 years. The clinic was established to review and assess children with risk factors for cerebral palsy to diagnose them early and ensure an early intervention pathway is established. Dr Tantsis has previously completed a PhD (2014) in paediatric neurology on central nervous system demyelination. She is currently involved with various research projects which are being conducted on children with cerebral palsy including a review of imaging findings of children enrolled in the GAME trial with Dr Morgan as the CI. Dr Tantsis is trained in the general movements assessment (GMA) of infants and has also had practical training in the Hammersmith infant neurological examination (HINE) as part of the assessments for the early diagnosis clinic. Dr Tantsis is involved with clinical trials being conducted in spinal muscular atrophy (SMA) and is part of the team helping to expedite treatment availability to children with this disorder.

Clinical Associate Professor Helen Young graduated from the University of Edinburgh in 1993 and has completed her speciality training in both paediatrics and paediatric neurology. She has trained extensively in paediatric neurology both in Australia and the UK, including a post-fellowship sabbatical at the Dubowitz Neuromuscular Centre in Great Ormond Street Hospital in London.

Her post-graduate qualifications include Membership of the Royal College of Physicians (MRCP (Edinburgh), Fellowship of the Royal Australasian College of Physicians  (FRACP), and Masters by Research (MMed) in neuromuscular disorders. She is a Clinical Associate professor at the University of Sydney and a senior staff specialist in paediatrics and paediatric neurology at Royal North Shore Hospital and the Children’s Hospital at Westmead Neuromuscular Service.

She is currently completing a Masters in Bioethics and is committed to compassion, equity, and transparency in the delivery of healthcare to vulnerable populations. She is involved in the clinical trials program at Children’s Hospital at Westmead and is particularly committed to ensuring ethical and equitable access to therapeutic trials and high-cost drugs.

Jen Roberts is a physiotherapist with many years of experiences in Paediatrics. She joined the Children’s Hospital at Westmead Neurogenetics team in 2019 and has been a clinical evaluator in multiple DMD clinical trials since this time. Prior to joining this team, she worked in other paediatric settings, both  within hospitals and the community settings. Jen enjoys completing the physiotherapy assessments with the boys, and observing how they change over time.