In honor of our annual AHC Day, AHCF is excited to announce that we will be able to fund two research projects to get us one step closer to a treatment for AHC!
Fundraising is an integral part of any organization but more so for a small rare disease organization like the Alternating Hemiplegia of Childhood Foundation.
In 2016 we created an end of year campaign called “Step Up to End AHC”. It involved the participation of AHC families sharing their story. We couldn’t be more pleased. Through our Step Up campaign as well as two independent fundraisers, we received over $125,000 in donations. These funds will be used for the second half of our $250,000 grant that was awarded at our Family meeting in Indianapolis, July 2016. The research project “Molecular Physiology and Pharmacology of ATP1A3 Mutations in AHC” is a joint effort conducted at Vanderbilt University School of Medicine under the direction of Dr. Kevin Ess and Northwestern University Feinberg School of Medicine under the direction of Dr. Alfred George. This is the fifth phase of the grant and continues with the experiential approach to quickly identify disease pathways as well as potential therapeutics that can help those affected with AHC.
We are also are pleased to announce a donation from the Nina and Jake Kamin Foundation in the amount of $125,000 to further fund pivotal research. These funds along with additional funding from the AHCF for a total of $130,000 will go directly to the research project “Therapeutic Effect of Various Approved Drugs and Experimental Compounds in the D801Y Mice”, under the direction of Dr. Al George. Dr. Thomas Holm will conduct the studies and he joined the Northwestern group in April 2016 after successfully engineering the D801Y mouse in Aarhus University in Denmark where he was a postdoctoral fellow. (Holm, et al., manuscript under review).
“Although D801Y was originally described in association with human RDP, mice engineered with this mutation exhibit features most closely aligned with AHC including hyperactivity, impaired learning and memory, ataxia and hemiplegia/dystonia upon cold water immersion. Flunarizine appears to protect the mice from attacks of hemiplegia induced by cold water immersion. The mice do not exhibit epilepsy but have a lower threshold to chemically-induced seizures. Importantly, the mice were never observed to develop a permanent dystonia as is characteristic of RDP in humans”, said Dr. George. A very robust colony has been created and testing will commence within the next few months.
AHC is a rare disorder that causes sporadic episodes of paralysis, painful dystonia, delayed development and over 50% have epilepsy. It has been found in less than 1000 people worldwide but is believed to affect far more patients. This disorder typically begins prior to 18 months of age, but despite the name, it lasts throughout one’s life.
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