4th Symposium on ATP1A3 a Huge Success!

4th Symposium on ATP1A3 a Huge Success!


August 27- 30 brought together over 70 Researchers, Clinicians, and Patient Advocates in AHC (and other ATP1A3 diseases) at the DoubleTree Bethesda (DC Metro, USA) Conference Center for the 4th Symposium on ATP1A3 in Disease. Everybody had the chance to mingle at a welcome reception Thursday Evening.

Friday kicked off with NINDS Director Walter Koroshetz delivering the keynote address on how the NIH has developed new programs and a focus on rare disease research, and how researchers and advocacy groups like those involved in ATP1A3 research might tap into those programs. Priya Krishnani of Duke University shared her teams journey from gene discovery to treatment in Pompe Disease, with advice on how emerging technologies might help shorten the cycle to treatment for AHC and related diseases.

Then began a robust set of presentations/discussions on how the natural history of AHC /ATP1A3 diseases might take shape- how to define terms, what criteria to capture, how to capture, and the like.

There was a screening of the AHC Documentary for the symposium audience, followed by presentations on latest findings in the expanding list of ATP1A3 mutations and new phenotypes (sets of symptoms). There were also discussions on efforts to find the root cause of those who have AHC symptomatology but lack a mutation in ATP1A3. Most of this research is unpublished, so sadly we cannot share more here.

The 5th Symposium will be in London August 24-26. There were discussions on how best to plan for this event, and an Organizing Committee formed.

Saturday featured the latest research on the molecular studies on ATP1A3. These were highly technical yet very important studies that help point towards potential targets for treatment. Again most of this research is unpublished, so we are limited on what we can share.

The Event Chairs Cure AHC president Jeff Wuchich & Erin Heinzen of Columbia University concluded the event by leading a very productive brainstorming session for funding and future directions. The research teams all laid out their expected accomplishments for the coming year, the IAHCRC committed to having clear natural history criteria in the next 2 months, and the AHC International Alliance will continue to partner closely with the research teams to identify funding sources to keep research moving rapidly!

Thank you to everyone involved in putting in what many called the best symposium yet!

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