Research Updates – January 2017
A research team in Germany reported in the Journal of Pediatrics two case studies of patients presenting clinical features of alternating hemiplegia of childhood, both having a mutation in the ADCY5 gene. This anecdotal evidence suggests that those patients with AHC symptoms but no mutation in ATP1A3 may wish to be tested for a ADCY5 mutation. The team at Duke will add this to their screening panel, and families are encouraged to contact DukeAHC@dm.duke.edu if they are interested in having their AHC Champion tested for this mutation. See the abstract of the article HERE
Big news! Thanks to an anonymous donation in honor of AHC Champion Drew (TX, USA) Cure AHC has awarded $50,000 to Duke University to commission a mouse model study of ATP1A2 mutation. We have seen a growing number of patients with AHC symptoms and mutations in this gene. Also, research into the downstream effects of ATP1A2 mutation will help enhance our understanding of ATP1A3 mutations. We are grateful for the generosity that makes this project possible, and to the brilliant minds on the Duke Research team who are involved in multiple collaborative projects to get to the Cure for alternating hemiplegia of childhood!
More good news- Cure AHC has awarded a $25,000 grant to a collaborative project with Duke University, Columbia University, and Insilico Medicine. Insilico approached Cure AHC with the idea, and we connected them with our teams at Duke & Columbia. This is the beginning stage of a drug development process that is strategic in nature, and will require many hundreds of thousands of dollars more in investment. Check out http://insilicomedicine.com/
And we have even more good news to share! Cure AHC is proud to announce we have awarded a $25,000 grant to Columbia University to continue their optogenetics study and to collect additional data in support of the collaborative project with Duke & Insilico Medicine we mentioned above. This means your generosity will be doing double duty!! We are grateful for the dedication of the Columbia team to finding the cure for Alternating Hemiplegia of Childhood! Check out http://www.igm.columbia.edu/collaborations/academic-collaborations/alternating-hemiplegia-childhood-ahc