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AUSTRALIA

Together We Can Find A Cure

About the Foundation

Our vision is to advance medical research with the foremost objective being to find a cure for CASK gene mutations and associated conditions related to CASK.

We Support the CASK Community

Newly Diagnosed

Information and resources about CASK disorders and find out how to connect with other CASK Parents.

Research

ACNRF is committed to establish and help fund research into finding a cure for CASK disorders.

Patient Database

ACNRF have partnered with RARE-X to drive a Data Collection Program for CASK and related conditions.

Donate

Your support and contributions will enable us to facilitate research improving the quality of life of those diagnosed with CASK Gene Disorders.

Therapies

Early intervention is specialised support for children which aims to promote a child’s development, family and child’s wellbeing and assisting the child to take part in their community.

CASK Coalition​

The aim of the CASK Coalition is to harmonize and mobilize the full force of CASK foundations toward advancing treatments and a cure for CASK disorders.

Please support us

Your support and contributions will enable us to facilitate research into CASK Gene mutations and associated conditions, with the ultimate objective of finding a cure and improving the quality of life of those diagnosed with CASK Gene Disorders.

“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