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ACNRF’s Current Research (Happening Now! )


Understanding the mechanisms of the disease

ACNRF is committed to help establish a translational pathway for the development of clinical treatments by understanding the molecular and cellular mechanisms underlying CASK. This involves investing in both cell and mouse models. 


Finding the CURE

Discovering drugs and exploring gene therapy are both crucial avenues of research aimed at finding a cure for CASK.

Gene therapy (current investigation is reactivating the silenced gene) holds the potential to significantly increase the presence of the CASK protein in the brain, which is essential for proper function. This could greatly improve the disease prognosis, however, it may take several years before reaching clinical trials. In the interim there may be existing proven drugs that can be applied immediately to alleviate the disease symptoms for children living with CASK Gene Disorders.

With your generous support we will be able to develop both approaches concurrently as ACNRF’s vision is to advance medical research with the foremost objective being to find a cure.

Therapeutic Research Project – Fully Funded

Professor Konark Mukherjee of University of Alabama is researching a drug that may prevent cerebellar degeneration due to CASK loss and or generally may improve the quality of life of children suffering from the Cask Gene disorder. 

To date research work from Dr. Mukherjee’s laboratory suggests that CASK is not only critical for information transfer and processing in the brain, but it is also a key regulator of brain metabolism. Thus, a brain without proper CASK function cannot keep up with the normal rate of brain growth after birth.

Gene Therapy CURE CASK Project – First Phase Funded

As part of the CASK Coalition, ACNRF has partnered with their fellow members UK Cask Research  and the Association Enfants CASK France to raise enough money to fund a promising research project that aims to cure CASK gene disorders by activating a backup copy of CASK in girls.

The CASK Coalition has together funded the First Phase of this Project. ACNRF USA is currently raising funds for the Second Phase. If you can support please visit ACNRF USA.

In the brain of every female with a CASK gene mutation, there are silenced copies of the healthy CASK gene. The project is proposing to “turn on” these silenced genes. The genes will then be able to create the CASK protein.

This will, theoretically, result in a brain which, initially having just half of the CASK protein needed to function properly, will have much more. This should have a dramatic impact on the prognosis of the disease since the brain will now have enough of the CASK protein needed to function properly.

“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.”