Our story

Dr Alexandra Johnson MBBS, FRACP - Advisory Board Chair
Alex is a child neurologist working at Sydney Children’s Hospital, Randwick as well as Royal North Shore and Liverpool hospitals. She also consults from private rooms. She enjoys working with children across many different fields within paediatric neurology, including seizures, headache and disability. She has a special interest in epilepsy and NCL disease.

Professor Ingrid Scheffer AO MBBS PhD FAA FAHMS
Ingrid is a physician-scientist whose work as a paediatric neurologist and epileptologist at the University of Melbourne and the Florey Institute in collaboration with Professor Samuel Berkovic and molecular geneticists, has led the field of epilepsy genetics over more than 25 years. This has included the identification of the first epilepsy gene and many genes subsequently. Her major interests are in the genetics of the epilepsies, epilepsy syndromology and classification, and translational research. She collaborates on research on the genetics of speech and language disorders, autism spectrum disorders, cortical malformations and intellectual disability.

Professor John Grigg MBBS (QLD) MD (SYD) FRANZCO FRACS
John is head of the Discipline of Clinical Ophthalmology and Eye Health at the University of Sydney's Save Sight Institute. He leads the clinical visual electrophysiology service, and has clinical responsibilities, at the Sydney Eye Hospital and the Children’s Hospital, Westmead, Sydney, including specialised clinics for inherited eye disease and glaucoma. He is a member of the eye genetics research group Save Sight Institute, Children’s Medical Research Institute and Children’s Hospital Westmead. His main areas of research are in inherited retinal diseases, glaucoma and electrophysiology of the visual system. He is also a chief investigator on several NHMRC grants looking into new therapies for inherited retinal disorders.

Professor Michael Fahey MBBS (Hons) FRACP PhD
Michael is a clinician-researcher and Fulbright Scholar. He is trained in Paediatrics, Child Neurology and Clinical Genetics and is Head of Child Neurology, Director of Neurogenetics at Monash Health and Professor of Paediatrics at Monash University. His research focuses on neuroprotection and using neurogenetics to understand and improve outcomes for childhood diseases of the brain, muscle and nerve. His teams have developed preclinical models of disease at the Australian Regenerative Medicine Institute, the Ritchie Centre and Monash University. These studies have translated lab-based research in melatonin and stem cells to ongoing Phase II/III neuroprotection trials. Michael has more than 140 publications in leading journals, including Nature Reviews Neurology, Brain, JAMA and Nature Genetics, with >5000 citations.

Professor Angela Morgan BSpPath(Aud Hons) PhD CPSP
Prof. Angela Morgan is an NHMRC Practitioner Fellow and leads the Speech and Language group at the Murdoch Children's Research Institute. She is also Professor of Speech Pathology at the University of Melbourne. Angela has over 20 years of clinical-research experience. She is passionate about improving the communication abilities of children with disability, to optimise their development and enhance life outcomes. Angela currently leads the NHMRC CRE in Speech and Language which focuses on: (i) identification of new gene pathways leading to child speech and language disorders, (ii) conducting genotype- speech phenotype studies for rare genetic syndromes leading to more targeted therapies, and (iii) elucidating the neurobiology of speech and language disorders using quantitative brain imaging techniques.

Dr Drago Bratkovic MBBS FRACP HGSA
Drago is a paediatrician, metabolic physician and clinical geneticist who received training in both metabolic medicine and clinical genetics through the Children’s Hospital at Westmead in Sydney and the Women’s and Children’s Hospital in Adelaide. He took on the position of Head of the Metabolic Clinic in 2008. Dr Bratkovic’s clinical and research interests include the use of using advanced technology for genetic testing, and lysosomal storage disorders including innovative treatment approaches such as enzyme replacement therapy, small molecules and gene therapy.

Associate Professor Anthony Cook PhD
Tony is Head of the Stem Cell Models Group at the Wicking Dementia Research and Education Centre, University of Tasmania. He completed his Doctor of Philosophy studies at the University of Queensland in 2004, and following 6 years of post-doctoral research appointments (UQ and Griffith University), he moved to a teaching-research position at the University of Tasmania in 2009, and then the Wicking Centre in 2015. Here, he leads and collaborates on projects utilizing pluripotent stem cell cultures and CRISPR/Cas gene editing to study genetic diseases causing neurodegeneration in children, gene-environment interactions in amyotrophic lateral sclerosis, and mechanisms of how axons degenerate. A regular contributor to NCL research events and conferences here and abroad, Tony’s work in stem cell models of CLN3 Batten disease has attracted numerous competitive grant funding including from BDSRA Australia, Beyond Batten Disease Foundation and the Medical Research Future Fund.

Dr Nicholas J.C Smith MBBS (Hon), DCH, FRACP and PhD (Cantab)
Nick is a paediatric neurologist at the Department of Paediatric Neurology at the Women’s and Children’s Hospital in Adelaide, specialising in paediatric and adult neurometabolic diseases with a particular interest in the disorder of lysosomal function. He maintains a conjoint academic appointment with the University of Adelaide School of Medicine. His clinical and scientific research interests focus upon defining the pathological mechanisms underpinning neurological forms of lysosomal disease in order to inform the development of novel therapeutic approaches, including gene-based therapies for children and adults with lysosomal and related neurodegenerative disorders.

Lisa Tilbrook Master of Speech Pathology (MSLP)
Lisa is a senior speech pathologist at Thrive Health Centre in South Australia, managing a multi-disciplinary allied health team servicing people with disabilities and developmental delay. She has a special interest in Augmentative and Alternative Communication (AAC), providing communication access through assistive technology to people with complex cognitive and physical impairments. Lisa holds a Master’s Degree in Speech Pathology from Flinders University and a Graduate Certificate in Education (Complex Communication Needs) from Edith Cowan University. She is a registered Positive Behaviour Support practitioner through the NDIS, and a member of the Association for Positive Behaviour Support Australia (APBSA).