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Recent Findings

Some Relevant Findings

  • The functional loss due to the absence of cask occurs due to the death of neurons in the brain;
  • Regression in adolescence has been observed;
  • It is suggested that MICPH with CASK is degenerative. This means that there is brain cell loss.
  • It is also suggested that toxicity caused by the brain cell loss could also affect functioning of the remaining neurons.[1]

[1] The Non-Linear Path from Gene Dysfunction to Genetic Disease

Published Research Papers of Interest

CASK Disorders Ute Moog, MD and Kerstine Kutsche PhD Initial Posting November 2013, last updated 21 May 2020

Phenotypic and molecular insights into CASK-related disorders in males 12 April 2015

Looking behind a rare brain disease for clues to treat more common mental disorders 15 February 2019

Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways July 2020

Scientists Identify how a nonfuctioning CASK gene creates chaos in the brain 24 July 2020.  

The Non-Linear Path from Gene Dysfunction to Genetic Disease. Lessons from the MICPH March 2022.

The role of CASK in Central Nervous System Function and Disorder 25 May 2022. 

Expanding the natural history study of CASK related Disorders to the prenatal period 29 Sept 2022. 

The Competitive Loss of Cerebellar Granule and Purkinje Cells Driven by X-Linked Mosaicism in a Female Mouse Model of CASK-Related Disorders 17 May 2025.

Jun N-Terminal Kinase Inhibitor Suppresses CASK Deficiency-Induced Cerebellar Granular Cell Death in MICPCH Syndrome Model Mice 20 May 2025.

 

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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.

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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