Expertise: As a neuroscientist with a broad background in genetics, neuroscience, and molecular cell biology, I seek to establish innovative new gene therapies for the group of devastating neurodegenerative disorders termed leukodystrophies - genetic diseases of the central nervous system white matter associated with an early onset, substantial mortality, and a lack of effective treatment options.
Approaches: To advance the understanding of the underlying pathophysiology of leukodystrophies, my research program establishes accurate genetic disease models. These models are instrumental for the development and testing of novel virus-mediated gene therapies in pre-clinical studies. I am using Adeno-associated viral vectors equipped with cell type-specific promoters to replace the mutated, disease-causing gene with a functional copy of the same gene precisely in the brain cell type where it is needed.
Impact: My research has significantly advanced the understanding of leukodystrophies and successfully utilised refined CNS-targeted gene therapy to rescue leukodystrophy pathology in animal models of the disease.
Fields of Research (FoR)Neurosciences, Central nervous system, Gene and molecular therapy, Neurogenetics
I am a neuroscientist with a broad background in genetics, neuroscience, and molecular cell biology. My research seeks to establish innovative new gene therapies for the group of devastating neurodegenerative disorders termed leukodystrophies - genetic diseases of the central nervous system white matter associated with an early onset, substantial mortality, and a lack of effective treatment options. My research has significantly advanced the...view more
I am a neuroscientist with a broad background in genetics, neuroscience, and molecular cell biology. My research seeks to establish innovative new gene therapies for the group of devastating neurodegenerative disorders termed leukodystrophies - genetic diseases of the central nervous system white matter associated with an early onset, substantial mortality, and a lack of effective treatment options. My research has significantly advanced the understanding of these diseases and successfully utilised refined CNS-targeted gene therapy to rescue disease pathology in mice. I have over 14 years of experience in translational neuroscience including in vivo disease modelling and the development of targeted gene therapies.
Commencing in 2023, my group is supported through two new research grants from the NHMRC and MRFF. This funding will expand the spectrum of neurological diseases investigated by my research program to include dementias, specifically globular glial tauopathies, as well as hereditary spastic paraplegias. Employing the refined pre-clinical modelling and gene therapy platforms, developed through my leukodystrophy research, will help to uncover the pathophysiology underlying these currently incurable conditions and guide the development of tailored treatment strategies.
At UNSW Sydney, I lead the CNS Gene Therapy group, which is part of the Translational Neuroscience Facility in the School of Biomedical Sciences. I contribute to the discipline in my roles as committee member of the UNSW Animal Care and Ethics Committee and as editorial board member of the Rare Disease and Orphan Drugs journal and Frontiers in Neuroscience. I also engage with the non-scientific community through my work for two not-for-profit organisations. I am the Vice President and Scientific Advisor of Leukodystrophy Australia, an organisation that provides information, support, and advocacy to those affected by leukodystrophies. I am also Scientific Advisory Board Member to the Mission Massimo Foundation, aimed at accelerating the discovery of genetic variations responsible for childhood leukodystrophies and to translate these findings into clinical treatments.
- Medical Research Future Fund (MRFF) Stem Cell Therapies Mission (2023 -2025); Moon's Mission: creating a replicable therapeutic framework for hereditary spastic paraplegias ($940,424)
- National Health and Medical Research Council (NHMRC) Ideas Grant (2023 - 2026); Understanding neurodegeneration caused by oligodendroglial dysfunction ($1,025,253)
- National Health and Medical Research Council (NHMRC) Ideas Grant (2021 - 2026); Bionic-array Directed Gene Electrotransfer for Treating Focal Brain Disorders ($1,941,000)
- Medical Research Future Fund (MRFF) Accelerated Research (2019 -2023); Massimo’s Mission – The Leukodystrophy Flagship ($3,000,000)
- European Leukodystrophy Association (ELA)project grant (2019 -2022); Towards preclinical proof-of-concept for HBSL gene therapy ($316,000)
- European Leukodystrophy Association (ELA) pilot grant (2016); Modelling and treatment of the novel leukoencephalopathy HBSL ($69,000)
- German Research Foundation DFG - Early Career Research Fellowship (2014 -2016); Exosome-mediated nanomedicine for the treatment of leukodystrophies ($126,000)
- PhD (2014 - Summa cum laude; Johannes Gutenberg University Mainz). Thesis: Oligodendroglial Exosomes in Glia to Neuron Signaling
- MSc (2009 - with distinction; Johannes Gutenberg University Mainz)
- UNSW Sydney SoMS New Researcher of the Year (2019)
- UNSW Sydney SoMS Paper of the Month award (2018)
My Research Activities
I have established a comprehensive research program focused on developing innovative new gene therapy strategies for a neurodegenerative disorders with a focus on leukodystrophies. My research program can be split into two main activities:
- Creation and characterisation of novel disease models, which are integral in understanding the pathophysiology underlying leukodystrophies and other neurological diseases
- Pre-clinical efficacy studies demonstrating the effectiveness of AAV-mediated gene therapy for the treatment of leukodystrophies and other brain disorders
My Research Supervision
Areas of supervision
I supervise PhD, Masters, Honours and Independent Learning Project students undertaking research in the areas of neuroscience and gene therapy.
I currently supervise one PhD student and one Neuroscience Honours student:
- Elizabeth Kalotay (PhD): Developing a gene therapy for the leukodystrophy HBSL
- Kwannatee Morey-Hype (NeuroHonours): AAV-mediated HBSL gene therapy proof-of-concept in oligodendroglial Dars1-KO mice
- UNSW Animal Care and Ethics Committee Member (since 2021)
- Rare Disease and Orphan Drugs Journal (RDODJ) - Editorial Board Member (since 2021)
- Frontiers in Cellular Neuroscience - Guest Editor (2020); Topic: Myelin Repair: At the Crossing-Lines of Myelin Biology and Gene Therapy
- Leukodystrophy Australia Foundation - Vice President and Scientific Advisor (since 2019)
- Mission Massimo Foundation – Scientific Advisor (since 2014)
- ABC Australian Story (2018) The Massimo Mission. https://www.abc.net.au/austory/the-massimo-mission/9771118
I contribute to teaching and student supervision into Science and Medicine courses, including lecturing Current Trends in Biotechnology, facilitating in the phase 1 medicine program, tutoring, and demonstrating.