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AUSTRALIA

Scientific Advisory Board

Our Scientific Advisory Board is an independent group of both highly regarded clinicians and scientists who generously volunteer their time and expertise to assist ACNRF in our mission to advance innovations in medical research related to nature, diagnosis, prevention and treatment of CASK gene mutations and related conditions.

Our Scientific Advisory Board members are:

Dr Denise Chan

Paediatric Neurologist

Dr Joanna Jen, MD, PhD

Head of Neurogenetics Division Mt Sinai

Rodrigo Suarez, PhD

Group Leader, Brain Evo-Devo Lab

Associate Professor Wendy Gold

Director of Academic Career Development (School of Medical Sciences)

Professor Stefan Thor

Professor in Biomedical Sciences
Faculty of Medicine 

Katsuhiko Tabuchi, M.D. Ph.D.

Dpt of Molecular & Cellular Physiology, Shinshu University School of Medicine

Dr Denise Chan

Dr Denise Chan is a Paediatric Neurologist who holds positions at Sydney Children’s Hospital (Randwick), Liverpool Hospital and Royal North Shore Hospital. Denise has expertise in epilepsy, neuroimaging and tuberous sclerosis complex, was well as extensive experience in general neurology. She is a conjoint lecturer at the University of New South Wales and has contributed to teaching and research. Denise has an interest in treatment of CASK Gene Mutations.

Denise works in partnership with families, bringing excellent organisational and communication skills. She understands the complexities of managing and investigating neurological diseases in children and infants, and is very supportive of families whilst walking this road.

Dr Joanna Jen

Head of Neurogenetics Division Mt Sinai

Dr. Jen is a neurologist with formal training in neuro-otology, the neurology of hearing, balance, and eye movement control.   She evaluates and treats patients with dizziness due to a variety of causes, spanning very common disorders for example, benign paroxysmal positional vertigo, vestibular migraine or migraine-associated dizziness suspected to be genetically complex, and other exceptionally rare hereditary neurodegenerative conditions such as episodic ataxia and pontocerebellar hypoplasia.  She sees patients in a subspecialty clinic at the Mount Sinai Hospital.  She works closely with colleagues who perform vestibular testing and vestibular rehabilitation, and she collaborates with surgical specialists in otolaryngology and neurosurgery at Mount Sinai.

Dr. Jen’s clinical focus in neuro-otology is complemented by research performed in her laboratory on the genetic and physiological bases of disorders affecting balance and eye movement control in neurodevelopment and neurodegeneration.  Her research spans many levels, from clinical observation to genetic characterization, cellular and animal studies, and clinical trials, to bring everything full circle back to patients.  The ultimate goal of her research is to improve diagnosis and develop treatments that will improve patient function and quality of life.

Rodrigo Suarez

School of Biomedical Sciences and Queensland Brain Institute: The University of Queensland

Biography

I am a biologist interested in the general question of how changes in developmental processes can lead to evolutionary variation and origin of complex traits (such as neural circuits). I study development and evolution of the brain of mammals. My doctoral thesis studied brain regions involved in olfactory and pheromonal communication in mammals. I discovered several events of parallel co-variation of sensory pathways in distantly related species sharing similar ecological niches, as cases of ontogenetic and phylogenetic plasticity. Currently, I study development and evolution of neocortical circuits by following two main lines of research: one aims to determine how early neuronal activity affects development of cortical circuits, and the other one aims to understand what developmental processes led to the evolution of the mammalian brain, including the origin of the corpus callosum exclusively in Eutherians, but not in monotreme or marsupial mammals, and the evolution of the neocortex in mammals but not in other vertebrates. My research combines molecular development (electroporation, CRISPR), transcriptomics, sensory manipulations, neuroanatomy mapping (MRI, stereotaxic tracer injections, confocal and image analysis), optogenetics, and in vivo calcium imaging in rodent pups and marsupial joeys.

Research Interests

  • Comparative vertebrate neuroanatomy
  • Brain development
  • Sensory neuroscience
  • Neuroethology
  • Evolutionary developmental biology
  • Olfaction and pheromones
  • Mammal zoology
  • Neocortical development and function

Qualifications

  • Doctor of Biomedical Science, University of Chile

Associate Professor Wendy Gold

Director of Academic Career Development (School of Medical Sciences)
Level 3 supervisor – Neuroscience theme
Laboratory Head, Molecular Neurobiology Research Lab
Kids Research, The Children’s Hospital at Westmead

 

Professor Wendy Gold is dedicated to advancing drug and gene therapies for genetic neurodevelopmental disorders. Leading the Molecular Neurobiology Lab at Kids Research, Westmead Children’s Hospital, her interdisciplinary team focuses on uncovering the pathogenic mechanisms behind these disorders to develop innovative therapies and clinical applications. By bridging neurology, neuropathology, fundamental neuroscience, clinical chemistry, and pharmacology, her translational research engages experts across various disciplines.

Utilizing stem cell differentiation to create “cortical brain organoids” in controlled laboratory settings, Professor Gold’s team explores the pathophysiology of neurodevelopmental disorders. Their work not only identifies but also tests novel therapeutic approaches such as novel drugs, gene therapies and gene editing. Given the challenges posed by genetic neurological disorders and the blood-brain barrier, the team is at the forefront of testing gene therapies, including CRISPR gene editing tools. These technologies hold the promise of crossing the blood-brain barrier and permanently correcting mutated genes back to their wild type in neuronal cells.

In their research, mouse and cellular models, including 2D neuronal cultures and 3D brain organoids, serve as invaluable tools. Associate professor Gold’s current projects include modelling Rett syndrome for gene therapy, exploring exon replacement therapy for Rett syndrome using CRISPR/Cas9 gene editing, investigating the metabolome in Rett syndrome patients, modelling maternal immune activation, and assessing gene and drug therapies for various genetic disorders like RARS2-related early-onset epileptic encephalopathy. Additionally, the team is dedicated to developing curative options for children with VAMP2 and SNAP25 variants, while also exploring biomarker discovery for STXBP1.

Professor Stefan Thor

Professor in Biomedical Sciences

Faculty of Medicine

Biography

BSc in Biology (1988) Umea University, Sweden

PhD in Molecular Biology (1994), Umea University, Sweden. Supervisor: Thomas Edlund

Postdoc, Molecular Neurobiology (1994-1999) Salk Institute, La Jolla, USA. Mentor: John B. Thomas

Assistant Professor (1999-2004), Harvard Medical School, Boston, USA

Professor of Developmental Biology (2004-2019), Linkoping University, Sweden

Professor of Developmental Biology (2019-), University of Queensland, Brisbane, Australia

Member of the Royal Swedish Academy of Sciences (2013-)

Qualifications

  • Doctor of Philosophy, Ume University

Katsuhiko Tabuchi

Dr. Katsuhiko Tabuchi is a professor in the Department of Molecular & Cellular Physiology, Shinshu University School of Medicine, Matsumoto, Japan. Dr. Tabuchi has been working on CASK for over 20 years, focusing on its molecular function on neurons in the brain. He is also working on the pathophysiology of neurodevelopmental disorders using mutant mice as disease models.

“In some ways, that CASK-linked pathology is degenerative in nature provides a positive outlook. Because microcephaly in CASK-linked pathology progresses postnatally, there may be a temporal window when therapeutic intervention might prevent or slow further brain cell loss. Regression, even in adolescence, has also been observed in some cases of MICPCH [119], again offering the tantalizing possibility that a therapeutic approach might prevent such decline under conditions when degeneration is known to progressThe potential benefits of intervention might extend even further given that non-cell-autonomous toxicity could also affect functioning of the remaining neurons; reduction of such toxicity, especially when coupled with high-intensity rehabilitative measures [120], might offer real hope for a positive impact on functional outcomes.”   

https://www.mdpi.com/2073-4409/11/7/1131/htm