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AUSTRALIA

Together We Can Find A Cure

Supporting the Community 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.

Newly Diagnosed

I know when I first was told the genetic cause of my daughter Angelina’s brain abnormalities it initially..

Donate

Your support and contributions will enable us to facilitate research improving the quality of life for children and adults diagnosed with the Cask Gene mutations.

Patient Database

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

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 for children and adults diagnosed with CASK.

“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