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AUSTRALIA

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Angelina Cask Neurological Research Foundation (‘ACNRF’) was founded as a Not for Profit Organisation by Giovi and Charles Moschoudis on 18 August 2020, in Sydney Australia. Less than two years after establishing ACNRF in Australia, Giovi Moschoudis founded ACNRF as an approved public charity in California on 20 June 2022. Giovi and Charles have a young daughter Angelina, who was diagnosed with CASK during 2019.

Giovi was 34 weeks pregnant, when an initial diagnosis of Agenesis of the Corpus Callosum (ACC) was made during a routine ultrasound. In simple terms, Angelina is missing the middle area of her brain which connects the two cerebral hemispheres and is the control centre for higher neural functions including our motor, sensory and cognitive functions.

This impacts Angelina’s ability to walk, talk, eat and control her emotional needs. The probable outcome provided by most of the members of the medical team, was that Angelina was unlikely to have any quality of life and she would be unable to walk, communicate and would be severely delayed. Giovi and Charles were given the option to terminate the pregnancy but chose to give Angelina a fighting chance.

Angelina also suffers from Microcephaly (small brain) which refers to a condition in which a child’s head is smaller than the typical range for the child’s age and gender.

Following extensive genetic testing, it was found that Angelina’s condition arises from a calcium/calmodulin-dependent serine protein kinase (CASK) gene mutation that has only recently been discovered and is a rare condition.

“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