Meet Alternating Hemiplegia of Childhood Foundation - Find a path to the cure for Alternating Hemiplegia of Childhood (AHC).

Alternating Hemiplegia of Childhood Foundation - Find a path to the cure for Alternating Hemiplegia of Childhood (AHC).

Goals

• To use advanced genetic testing on target group of AHC patients
• To use results to effectively screen larger population of AHC patients
• To find the root cause of AHC in hopes of a cure

 

 Overview

The project seeks to identify the genetic cause for a rare and devastating neurologic disorder in children, Alternating Hemiplegia of Childhood.  To accomplish this, we need to take advantage of the most advanced genetic technologies available.  We have amassed the largest database of children with AHC. No one has yet been successful in identifying any common genetic mutation in AHC patients.  Our project plan is simple: we will first take a DNA sample of a target group of AHC patients, use the most advanced genetic technology available, including whole genome sequencing, and screen for any shared genetic mutation.  Next, we will take the mutation identified in our pilot group and then screen the remaining children in our database.  Leveraging this methodolgy in the first phase of our trial will make the screening of the remaining patients more efficient and cost-effective. Ultimately, in finding the cause of AHC, we hope to take the first step towards a cure.

How will the 250K be Used?
$ 79,634	Personnel
$ 166,400	Labs and procedures
$ 3,000	Patient costs

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