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Cure based on CRISPR systems

Alternating Hemiplegia of Childhood (AHC) is a rare neurological condition which is clinically
characterized by recurrent episodes of temporary paralysis, often affecting one side of the
body (hemiplegia). In addition to paralysis, affected individuals can have sudden attacks of
uncontrollable muscle activity as well as mild to severe cognitive problems, developmental
delays, physical disabilities and intellectual disabilities[1]

Extended research shows strong correlation between mutations in the ATP1A3 gene and the
symptoms of AHC [11], therefore the ATP1A3 mutations are presently considered as the main
cause of AHC. Certain researches showed that on rare instances some mutations in the
ATP1A2 gene are also involved in this condition [9] [10]

and therefore mutations in the ATP1A2 gene will most likely be included in relevant continuation research efforts.
The Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and CRISPR
Associated (Cas) system Type II is a relatively new genome engineering technology that was
first described in 2013 and enables multiple types of DNA editing at specific targeted

Since 2013 thousands of publications were written describing the work that was done to
improve the accuracy of this mechanism, as well as describing experimentation on animal
and human cells as well as animal lab experiments [2] [3]

In addition, certain institutes have
shown that CRISPR can be used to eradicate HIV from human immune cell lines [5] [6] [23]
some commercial companies have started using the CRISPR systems in order to research a
treatment for rare blood disorders and other diseases [7] [52]

Common rationale states that a genetic condition will be most effectively treated and
permanently cured by a solution which is implemented at the genetic level. The ultimate
goal is to use a CRISPR system in order to remove the ATP1A3 mutations and replace them
with „healthy“ DNA sequences or use another type of DNA manipulation that will produce
an equivalent result. The goal for this preliminary study is to conduct a gap analysis process
with respect to the CRISPR technology’s capabilities and determine which steps should be
taken in order to eventually achieve the aforementioned ultimate goal.


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