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AUSTRALIA

Our Mission & Values

Our Mission

ACNRF wish to advance innovations in medical research related to nature, diagnosis, prevention and treatment of CASK gene mutations and related conditions.

Our Vision

ACNRF’s 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.

Our Values

Committed
We are first and foremost committed to advancing research into CASK. This rare disease is very close to our hearts and this drives our unrelenting focus on doing whatever it takes to improve the lives of all those affected by CASK.
Compassion & Understanding

We are empathetic and respectful to all cask families and we acknowledge the struggles, while remaining supportive, proactive, and hopeful. .

Collaborate
We will engage and collaborate with researchers, the medical profession and both public and private sectors, because we know that we can achieve our mission only by working together.
Ethics & Integrity
We are honest and adhere to the highest moral principles.

“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