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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:

Associate Professor Wendy Gold

Director of Academic Career Development (School of Medical Sciences) Molecular Neurobiology Research Lab
Kids Research, The Children’s Hospital at Westmead

More about Wendy

Professor Stefan Thor

Professor in Developmental Biology
School of Biomedical Sciences
The University of QLD
More about Stefan
2004

Professor Ernst J. Wolvetang

Senior Group Leader Stem Cell Engineering Group & Director Australian Organoid Facility (AOF) at The University of QLD

More about Ernst
Lavvina Thiyagarajan

Lavvina Thiyagarajan, MBBS

Clinical Genetics Fellow at Sydney Childrens Hospital

More about Lavvina

Katsuhiko Tabuchi, M.D. Ph.D.

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

More about Katsuhiko

Dr Denise Chan

Paediatric Neurologist Sydney Childrens Hospital

More about Denise
More about Stefan
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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

Ernst Wolvetang

Australian Institute for Bioengineering and Nanotechnology

Professor Wolvetang is an international leader in pluripotent stem cell biology and human functional neuro-genomics. He leads the Australian organoid facility at AIBN-UQ. His expertise spans reprogramming somatic cells, tissue engineering, genome manipulation with CRISPR, molecular biology, transcriptome analysis, and development of microfluidic devices and nanoparticles for cell analysis and regenerative medicine.

He has been pivotal in advancing induced pluripotent stem cell (iPSC) technology in Australia, focusing on generating iPSCs from patients with neurological disorders. This approach allows for unlimited generation of human brain cells, disease modeling, and drug screening, with potential for patient-specific cellular therapies.

Professor Wolvetang received his PhD in 1992 from the University of Amsterdam. His postdoctoral research at Monash University explored apoptosis, Down syndrome, and Ets transcription factors. He joined the Australian Stem Cell Centre in 2003, leading to a significant Nature Biotechnology publication in 2006. In 2008, he became an independent group leader at the AIBN and a Professor at the University of Queensland, focusing on iPSCs for neurological diseases.

He led the “Reprogramming and Induction of Pluripotency” Collaborative Stream of the Australian Stem Cell Centre and the UQ-stemCARE initiative. His ongoing research integrates cell reprogramming, genome editing, and advanced detection and delivery technologies to model diseases, investigate gene regulatory networks, and develop novel therapeutics.

Please visit https://researchers.uq.edu.au/researcher/2004 to learn more about Professor Wolvetang Awards and Publications

Lavvina Thiyagarajan

MBBS

Lavvina is a clinical genetics fellow from NSW, Australia with a background in general paediatrics. She has practiced in multiple tertiary paediatric hospitals in Australia, both in general paediatrics and clinical genetics. She currently provides specialist advice for the NGO, Taking Paediatrics Abroad and is a member of GeneEQUAL, an inclusive research group aiming to improve accessibility of genetic testing and care for people with intellectual disability by co-design.

Lavvina’s clinical interests are in the genetics of autism, intellectual disability and immunogenomics. She is particularly passionate about including the patient groups she works with in research and healthcare decisions.

Lavvina is affiliated with The Children’s Hospital Westmead and the University of New South Wales where she is undertaking a Masters by Research, co-producing a model of genetic healthcare that aligns with the preferences of Autistic people.

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.

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.

Permission to Use Photos and Media

I, the undersigned, give my consent to the Angelina CASK Neurological Research Foundation Ltd and Angelina CASK Neurological Research Foundation Inc (ACNRF) to use photographs, videos, or other media featuring me, my child, or an individual under my legal guardianship (“Media Materials”).

This consent permits ACNRF to use these Media Materials for purposes such as:

  • Raising awareness of CASK-related disorders
  • Promoting ACNRF’s initiatives, campaigns, and programs
  • Sharing on ACNRF’s website, social media, newsletters, and other communication channels
  • Use in advertising, educational resources, and fundraising efforts.

I understand that these materials may be distributed publicly and may appear in print, digital, and other media formats worldwide and in perpetuity.

Terms and Conditions:

1. Usage Rights: I grant ACNRF the right to edit, adapt, or modify the Media Materials as needed for the purposes outlined above.

2. No Compensation: I acknowledge that no monetary or other compensation will be provided for the use of the Media Materials.

3. Release of Claims: I waive any rights to inspect or approve the final product and release ACNRF from any claims, liabilities, or damages related to the use of the Media Materials, including but not limited to claims of defamation, privacy, or copyright infringement.

4. Ownership Confirmation: I confirm that I have the authority to grant these rights for the provided Media Materials and that they do not infringe on the rights of any third party.

This authorisation is voluntary and may be revoked by written notice to ACNRF at any time, though I understand that materials already published may not be withdrawn.

“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 progress. The 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