ATP1A3 2015 | WASHINGTON, DC USA

This 4th edition of the Symposium on ATP1A3 in disease seeks to accomplish several key objectives:
To share the latest research findings in Alternating Hemiplegia of Childhood (AHC), Rapid Onset Dystonia-Parkinsonism (RDP), & CAPOS (Cerebellar ataxia — areflexia — pes cavus — optic atrophy — sensorineural hearing loss) Syndrome.

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To discuss various symptomology and what has (or could) be done to address them to improve quality of life for patients NOW
To discuss what steps we need to take today to be ready for clinical trials when we find candidate compounds for treatment
To involve new research and clinical teams in the important work ongoing
We want to express our gratitude for the crucial and generous effort of the family support groups in the organization of this Symposium.

We look forward to seeing you in Washington, DC Metro this August!
Jeff Wuchich (Cure AHC), David Goldstein (Columbia University), Erin Heinzen (Columbia University), Mohamad Mikati (Duke University) Chairpersons

AHC FOUNDATION FAMILY MEETING 2016 IN INDIANAPOLIS

The Foundation is very pleased to announce that the 2016 AHCF Family Meeting will be held July 13th thru 17th in

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Indianapolis, Indiana!

The AHCF Family Meeting offers access to AHC clinicians, genetic counseling, presentations of current research, and opportunities to connect with AHC families. Help us make our 10th meeting as helpful, educational, and valuable as the previous nine and better! More details are developing with our volunteer planning committee, so look for more information in the near future! See you there!

Comprehensive article on Genotype-Phenotype Correlations in 187 subjects

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
Louis Viollet, Gustavo Glusman, Kelley J. Murphy, Tara M. Newcomb, Sandra P. Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L. Barbano, Candida Brown, Mary E. Brunkow, Harry T. Chugani, Sarah R. Cheyette, Abigail Collins, Suzanne D. DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B. Jorde, Mary D. King, Bernie LaSalle, Richard J. Leventer, Aga J. Lewelt, Mylynda B. Massart, Mario R. Mérida II, Louis J. Ptáček, Jared C. Roach, Robert S. Rust, Francis Renault, Terry D. Sanger, Marcio A. Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J. Swoboda

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To read the article click HERE

A functional correlate of severity in alternating hemiplegia of childhood

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“Alternating Hemiplegia of Childhood (AHC) can present in a mild or severe manner. Some patients are able to live close to normal lives with the help of family members, while others are wheelchair bound and completely dependent. The disease is caused by mutations in an ion transporting protein in the brain that normally helps to maintain brain excitability. The pump removes sodium ions from neurons, and replaces with potassium ions, sometimes allowing hydrogen ions to pass through the pump and into the neuron because of their small size. Scientists have found a correlation between what mutation a patient has and how severely affected the patient is. In this study, researchers sought to determine how one mutation might be causing a more severe outcome than another. They focused on the three most common mutations (D801N, G947R, and E815K). They found that each of these mutations impaired the pumps ability to function almost equally. Scientists then worked to determine if the presence of one mutated copy of the gene could impair the function of the good copy. They found just that, that one bad copy had a dominant negative effect on the pump’s function, regardless of which mutation it was. Finally, researchers investigated whether the rate at which hydrogen ions passed through was different between the mutations. Only in the case of the E815K mutation, the mutation correlated with the most severe AHC presentation, the rate was significantly decreased. A decrease in hydrogen ions in the neuron can increase seizure susceptibility. This study provides the first insight into how mutations may be associated with disease severity.”
(Translated to “layman´s terms by Cure AHC”)

For the whole article click HERE

Rare Toolkits from Global Genes

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RARE Toolkits provide individuals with usable information on a variety of topics related to living with and/or advocating for rare disease patients. RARE Toolkits are being created in collaboration with key rare disease stakeholders that have developed a vast array of subject matter expertise and believe in the importance of sharing these best practices. RARE Toolkits are interactive and will continue to evolve as advocates share additional best practices around specific topics.

More on Rare Toolkits HERE