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Adventures in rare brain diseases: from neurons to a clinical trial and back again

Hosted by: Professor John Bekkers

Abstract

Batten disease refers to a group of 13 ultra-rare genetic childhood neurodegenerative diseases. Variants are found in genes encoding lysosomal enzymes, membrane proteins and ER-Golgi trafficking proteins, many of which remain poorly characterised. Despite this, significant advances have been made in developing therapies including enzyme and gene replacement therapies. In this talk I will describe our contributions to the development of a gene therapy in one form of Batten disease and recent work establishing induced pluripotent stem cell derived neurons and astrocytes to study disease biology and test new therapeutics.   

Biography

Professor Stephanie M. Hughes was trained in Biochemistry and Genetics at Victoria University of Wellington, completing a PhD working on sheep models of the childhood neurodegenerative disease, Batten disease. After postdoctoral fellowships at the University of Iowa Gene Therapy Centre with Professor Beverly Davidson and University of Auckland with Professor Bronwen Connor, she moved to the University of Otago, Dunedin to take up a permanent position in Biochemistry in 2008.

Her internationally recognised expertise in viral vectors helped her achieve a major research milestones, leading gene therapy trials that successfully prevented Batten disease in a naturally occurring sheep model. This work resulted in collaborations with a US company developing a human clinical trial for gene therapy. Furthermore, her work led to invitations to address companies and organisations, and international research collaborations through CureBattenCLN6 and as a board member for CureCLN8 (both US organisations). Professor Hughes has strong links with Batten disease families, clinicians and researchers throughout the world and is the chair of the upcoming International Batten disease congress being held on the Sunshine coast in Oct 2025.

She has successfully led grant applications totalling > $7 million and has supported 15 research groups (over $14 million), nationally and internationally through her role as Director of the Otago Viral Vector Facility. Together these projects have been funded through multiple grants from the HRC, Marsden, Brain Research NZ Centre of Research Excellence (BRNZ), the Neurological Foundation, Cure Kids, US and Australian Batten Disease Support and Research Association’s and the Charlotte and Gwyneth Gray Cure Batten Foundation (US).

Professor Hughes is the Director of the Otago Brain Health Research Centre (2020- ) and founding Director of the Otago RARITY (Research alliance for rare illness translational pathways) research theme (2025). She enjoys interactions with community groups including U3A, Neurological Foundation supporters groups and interactions at Brain Day events and is the NZ South Island Brain Bee coordinator. She has been a treasurer, deputy chair (2017-2021) and chair (2022) for the Australasian Winter Conference on Brain Research in Queenstown and is a board member and treasurer of the Otago Brain Injury Association. Professor Hughes is passionate about teaching at all levels in Biochemistry and Genetics. She was the Deputy Director, Genetics teaching programme for 4 years (till 2021) and has supervised 15 Hons, 9 Masters and 18 PhD students, many who have gone on to win national and international awards and fellowships.