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Research

ACNRF’s Current Research (Happening Now! )

Cure CASK’s research strategy is built around one connected objective: to move from understanding CASK at its most fundamental biological level to developing treatments that may improve the lives of children and individuals living with CASK-related disorders. 

Each research initiative forms part of this pathway. Fundamental biology helps explain how CASK affects brain development and function, patient-derived stem cells and brain organoids allow scientists to model the condition in human cells and screen potential treatments,  therapeutic drug research explores compounds that may reduce disease impact and gene reactivation research investigates the possibility of increasing functional CASK protein in the brain. 

Together, these projects create a coordinated translational research program, linking Australian and international scientists, CASK families and Coalition partners in the shared goal of advancing knowledge, accelerating discovery and bringing future treatments closer to reality.

FUNDAMENTAL BIOLOGY

Understanding the mechanisms of the disease

ACNRF is committed to help establish a translational pathway for the development of clinical treatments by understanding the molecular and cellular mechanisms underlying CASK. This involves investing in both cell and mouse models. 

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TRANSLATIONAL RESEARCH

Finding the CURE

Discovering drugs and exploring gene therapy are both crucial avenues of research aimed at finding a cure for CASK.

Gene therapy (current investigation is reactivating the silenced gene) holds the potential to significantly increase the presence of the CASK protein in the brain, which is essential for proper function. This could greatly improve the disease prognosis, however, it may take several years before reaching clinical trials. In the interim there may be existing proven drugs that can be applied immediately to alleviate the disease symptoms for children living with CASK Gene Disorders.

With your generous support we will be able to develop both approaches concurrently as ACNRF’s vision is to advance medical research with the foremost objective being to find a cure.

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Therapeutic Research Project – Fully Funded

Professor Konark Mukherjee of University of Alabama is researching a drug that may prevent cerebellar degeneration due to CASK loss and or generally may improve the quality of life of children suffering from the Cask Gene disorder. 

To date research work from Dr. Mukherjee’s laboratory suggests that CASK is not only critical for information transfer and processing in the brain, but it is also a key regulator of brain metabolism. Thus, a brain without proper CASK function cannot keep up with the normal rate of brain growth after birth.

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First Australian Research Initiative

Development of CASK Patient Derived Pluripotent Stem Cells (iPSCs) and Drug Screening for potential treatments to mitigate the effects of CASK

Professor Ernst Wolvetang, Dr Selin Pars and Professor Stefan Thor at The University of Queensland (“UQ”) will lead the development of CASK Patient Derived Pluripotent Stem Cells (iPSCs). The team will study these cells and their behaviour to understand the underlying mechanisms of CASK and how CASK plays out in individual mutations, with the ultimate aim of conducting drug screening of a wide range of drugs and compounds to identify those that may be effective in mitigating the disease’s effects.  

This remarkable approach to personalized medicine involves creating human “mini-brains” in-a-dish, referred to as brain organoids, that share the same genetic makeup as a patient’s brain affected by cask disease. These “brain organoids allow the team to safely test the most effective therapeutics without putting the patient’s health at risk.

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Stem cells

Gene Therapy CURE CASK Project – First Phase Funded

Most CASK therapies in development are vital we need every credible option.

In the brain of every female with a CASK gene mutation, there are silenced copies of the healthy CASK gene. The project is proposing to “turn on” these silenced genes. The genes will then be able to create the CASK protein. Essentially waking up what is already there.

This will, theoretically, result in a brain which, initially having just half of the CASK protein needed to function properly, will have much more. This should have a dramatic impact on the prognosis of the disease since the brain will now have enough of the CASK protein needed to function properly.

As part of the CASK Coalition, Cure CASK partnered with their fellow members UK Cask Research  and the Association Enfants CASK France to fund the First Phase of this Research Program.

Cure CASK USA are now fundraising for the Second Phase of this Research Program. To find out more about this rationale behind this Research Program click below.

 

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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.

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