CURE CASK

OUR CURRENT FUNDRAISING CAMPAIGN

CASK Research Foundation is partnered with ACNRF and AECF 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 THEORY behind

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. It could, effectively, cure CASK!

THE RESEARCH

The project will involve two parallel research streams:

  • Creating human induced pluripotent stem cells, growing
    them in a dish and turning them into different types of
    brain cells in order to evaluate the efficacy and efficiency
    of the approach.
  • Characterizing mouse models of Cask. This will include
    assessing the ability of the therapeutic to reactivate the
    healthy copy of Cask in the brain of mice and test the
    level of recovery this approach could have.

WHY IT'S OUR PRIMARY CAMPAIGN

Activating CASK in enough cells could conceivably reverse CASK
gene disorder symptoms. As a result, CASK Research Foundation
(advised by its expert scientific review committee), has agreed to
direct its current fundraising efforts towards creating sufficient
funds for this game-changing project

THE HISTORY

CASK aims to follow in the footsteps of another X-linked genetic disorder: CDKL5 deficiency disorder. X-reactivation has successfully been done (in mice models) for the CDKL5 gene. The team at UC
Davis is eager to have the opportunity to try their technique
on the CASK gene – a gene that displays all the markers of
being a successful candidate for this novel therapeutic.

UC Davis

The UC Davis MIND Institute located in California is a
collaborative international research center, committed to the
awareness, understanding, prevention, and treatment of the
challenges associated with neurodevelopmental disabilities
and rare x linked disorders.

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