Towards the Light: The 8th Annual Symposium on ATP1A3 in Disease

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The 8th Annual Symposium on ATP1A3 in Disease

3-4 October 2019

Reykjavík, Iceland

The 8th Annual Symposium on ATP1A3 in Disease 2019 will take place 3 - 4 October 2019 at the beautiful and conveniently located Grand Hotel Reykjavík in Iceland.

The host this year is the AHC Association of Iceland supported by an organizing committee that consist of European scientists that have been working on ATP1A3 related diseases for many years.

The ‘ATP1A3 Symposium in Disease’ is an important symposium that focuses on one of the key genes, the ATP1A3 gene that is essential for normal brain functioning. Mutations in the ATP1A3 gene has been linked to several neurological diseases, including Alternating Hemiplegia of Childhood (AHC). The ATP1A3 gene encodes the alpha(a)3 subunit isoform of the sodium pump, an ion pump that is present in all cells of the body and help cells to maintain correct ion balance, to support in-and outflux of molecules in the cell. In the brain, the a 3 isoform is specific to nerve cells, the neurons. In most neurons, the a 3 isoform helps to maintain the resting membrane potential and reset the ion gradient after an action potential. Doing this, the sodium pump uses energy from the cells and is the most energy-consuming ion pump in the brain. Therefore, it is not surprising that mutations that alter the function of such a vital pump, is associated with neurological diseases.

Registration is open!

Confirmed Invited Speakers:

Allison Brashear - Professor, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina
David B. Goldstein - Professor, Columbia University, New York
Francesco Danilo Tiziano - Associate professor, Università Cattolica del Sacro Cuore, Milano, Italy
Guangping Gao - Professor, University of Massachusetts Medical School, Worcester, Massachusetts
Helga Birgisdóttir - Artist, CEO and Creator of SMILER, Iceland
Kári Stefánsson - CEO of the company deCODE genetics, Island
Kathryn Swoboda - Professor, Massachusetts General Hospital, Boston, Massachusetts
Kevin Ess - Associate professor, Vanderbilt University Medical Center, Nashville, Tennessee
Laufey Ýr Sigurðardóttir - Child Neurologist and Epileptologist, University Hospital of Iceland, Reykjavik, Iceland
Laura Heimgartner, Mother of the boy Dax, who has AHC
Marisol Sampedro Castaneda - Project Research Scientist, The Francis Crick Institute, London, United Kingdom
Mohamad Mikati - Professor, Duke Institute for Brain Sciences, Durham, North Carolina
Peter Vangheluwe - Associate professor, Katholieke Universiteit Leuven, Belgium
Poul Nissen - Professor, Aarhus University, Aarhus, Denmark
Steven Gray - Associate professor, University of Texas Southwestern Medical Center, Dallas, Texas

This year, we also have the honor of having The President of Iceland, Gudni Th. Johannesson, giving the opening speech at the symposium (if his schedule permits).

Associations & Organizations in attendance:

AHC Association of Iceland - An association for patients with Alternating Hemiplegia of Childhood, and a non-profit organization offering support for affected children and their families
AHC Federation of Europe - Finding a treatment for Alternating Hemiplegia of Childhood

Further confirmed invited speakers will be announced soon

History of the ATP1A3 Symposium

Already since 2004, it has been known that mutations in the gene could cause a rare subtype of dystonia, the Rapid onset of Dystonia Parkinson (RDP). Since then, mutations in the ATP1A3 gene has been linked to diseases, including Alternating Hemiplegia of Childhood (AHC). Understanding the gene function will help find a treatment not only for the RDP and AHC diseases that have direct link to this gene but also to many other neurological diseases, which could will help millions of people suffering from disease such as Parkinson.

AHC is an extremely debilitating disease that causes temporary paralysis and dystonia as well as permanent mental disability, ADHD, autism and other related symptoms. Since the discovery that mutations in the ATP1A3 gene could cause AHC, researchers, parents and medical consultants join forces and formed the ATP1A3 annual symposium, to exchange advise, results and data to advance our knowledge towards a treatment.

The ‘ATP1A3 Symposium in Disease’ took a starting point in 2012, where 3 publications (Goldstein (doi: 10.1038/ng.2358), Gärtner (doi: 10.1016/S1474-4422(12)70182-5) and Hirose (doi: 10.1371/journal.pone.0056120) groups, including many very dedicated researchers, parents/patients and clinicians, representing people who stay active in the research field) showed that mutations in the ATP1A3 gene could cause Alternating Hemiplegia of childhood (AHC), in addition to another movement disorder, Rapid onset of Dystonia (RDP), that was discovered in 2004. Since then, the genotype/phenotype of ATP1A3 and neurological diseases has proven extremely complex, and through our annual symposium meetings, we gather prominent scientists along clinicians, parents and patients to understand the disease and find a cure.

Link to our vision and previous meetings: http://www.atp1a3disease.org/

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My sincere thanks goes out to the Symposium Organisation Committee for all this effort put in the organisation and we cannot wait to attend the event