BDSRA Australia is the Australian Chapter of the Batten Disease Support and Research Association (BDSRA Australia). BDSRA Australia was founded in 1995 by parents of children affected by Batten disease.
Batten disease is a family of severe, devastating neurodegenerative disorders that primarily affect children. Children with Batten disease are typically born healthy and develop normally before symptoms begin to appear. As the disease progresses, children typically suffer seizures, language decline, vision loss, cognitive and motor decline, dementia and early death. Learn more about Batten disease.
BDSRA Australia is dedicated to improving the well-being of patients and families affected by Batten disease in Australia.
BDSRA Australia seeks to:
We rely on generous donations from the public to fund our services. Find out how you can help turn HOPE into a CURE.
BDSRA Australia maintains a national register of patients affected by Batten disease. This enables us to keep in contact and provide families with information on key updates, useful resources and family events. If you have received a diagnosis of Batten disease, please contact us to be included in the national register.
Amber Rundle is the President of the BDSRA Australia. Amber is a full time mother of 3 young children after having had a long career in Event Management in the legal and corporate sector, she is also a qualified florist. Amber has been involved with fundraising and organising events for many charities over her corporate career and remains a member of the Vision Australia Black and White Committee for vision impaired children which she has been involved with for over 20 years. Amber joined the BDSRA Australia committee in January 2020 and later that year joined the board.
Dr Michael Fietz is the Vice President of BDSRA Australia. He is a Fellow of the Faculty of Science of the Royal College of Pathologists of Australasia and holds a PhD and Bachelor of Science from the University of Adelaide. Michael managed the Australia National Referral Laboratory for Batten disease for almost 15 years and has been associated with BDSRA Australia for nearly 20 years. Michael presently works in the field of next generation DNA sequencing.
Amanda Gilpin is a Registered Nurse working in the remote yet beautiful Pilbara region of Western Australia. The BDSRA has provided such amazing support to our family since our daughter was diagnosed with CLN5 in April 2021, so didn't have to think twice about working with the team at BDSRA as I am very passionate about advocating for both Hollie and all the beautiful Batten babies who have to fight so hard every single day, whilst also raising much-needed awareness for such a rare and heartbreaking condition.
Julia Mickler is the Secretary of BDSRA Australia. She holds a Bachelor of Arts (Hons) from Macquarie University, a Graduate Diploma in TESOL from University of Technology Sydney (UTS) and a Master of Arts in Applied Linguistics from UTS. She is mother of three and became involved with the BDSRA after her daughter Emily was diagnosed with juvenile Batten disease (CLN3) in 2017.
Vanessa Anderson is the Public Officer of BDSRA Australia. Vanessa joined BDSRA Australia in 2000 and managed BDSRA Australia until 2015. She has been raising awareness and fundraising for Batten disease since her son, Jordan, was diagnosed with the late infantile Batten disease in 1996. Jordan passed away in 2002. Vanessa works in the disability sector for Life Without Barriers.
Dr Ineka Whiteman is the Head of Research and Medical Affairs for BDSRA Australia. She holds a Bachelor of Science (Hons 1) in Neuroscience through combined studies at the Universities of Oxford and Sydney, and a PhD in Medicine from the University of Sydney. In addition to her academic research career, Ineka has held liaison roles to Federal Government Ministers, sat on the Board of Science and Technology Australia, and held senior Medical Affairs roles in a world-leading biotech company. As a consultant to our US partners too - the Batten Disease Support and Research Foundation and the Beyond Batten Disease Foundation - Ineka is passionate about advancing research in Batten disease, improving education and awareness, and facilitating the vital collaborations between clinicians, researchers, industry, advocacy groups and families as we strive for better treatments and a cure for Batten disease.
Liz Sanson is the Family Support Coordinator for BDSRA Australia. Liz has been part of the Batten disease community for 5 years. Her Batten angel, Matilda, will be forever 9.
Liz has spent years providing care, finding support, navigating the NDIS, problem solving in the disability space, and riding the emotional roller-coaster of Batten disease. She is now using the world of experience she has gained to help other families on this journey.
Bobbie Riddle is a qualified High School Science teacher. Bobbie’s and Jay's daughter, Tayla was diagnosed with late infantile Batten disease (CLN2) in 2016 just before her 4th birthday. In 2017 the family moved to America and participated in a 2 year clinical drug trial for Cerliponase Alfa (Brineura) which Tayla now receives in Australia.
BDSRA Australia's Medical and Scientific Advisory Board is comprised of leading medical and allied health experts with experience in diagnosis, treatment and management of Batten disease. The Advisory Board is a resource for other healthcare practitioners seeking advice on Batten disease management, and also supports BDSRA Australia’s research, education and awareness-raising efforts.
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.
Associate Professor Carolyn Ellaway, MBBS, PhD, FRACP, HGSA
Carolyn is a paediatrician and clinical geneticist with the Genetic Metabolic Disorders Service, Children’s Hospital, Westmead and Sydney Children’s Hospital, Randwick. She is head of the NSW Genetic Metabolic Disorders Service and a clinical associate professor at the University of Sydney. In her clinical role, Carolyn has been responsible for the care of children with a wide range of genetic metabolic disorders. This has included the multidisciplinary treatment of patients with lysosomal storage disorders and enzyme replacement therapy (ERT) delivery.
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).