Rare Disease Report

AHCF - Join Our Momentum

NOVEMBER 18, 2016

AHCF invites you to “Join our Momentum”

Alternating Hemiplegia of Childhood Foundation (AHCF) has invested over $2.2 million in research since we began in 1995. This past year our momentum continued as we realized over $311,000 in donations from our fundraisers and major donors.
In collaboration with AHC Ireland, we funded the 4th phase of the Vanderbilt and Northwestern Universities grant, “Molecular Physiology and Pharmacology of ATP1A3 Mutations in AHC.” $250,000 was awarded to Dr. Kevin C. Ess at Vanderbilt University and Dr. Alfred George, Jr. at Northwestern University to continue their work to determine functional and biochemical consequences of the three most common gene mutations causing AHC.

They have made induced pluripotent stem cells (iPSCs) derived from AHC patients. These cells will be differentiated to subclasses of neurons and tested for functional deficits. They will also be using a cell and computer based screening process to identify drugs or drug-like compounds that are capable of restoring normal ATP1A3 gene function. Finally, they will investigate novel animal models of AHC to elucidate mechanisms of the disease and to test therapeutic strategies. For progress reports of this and past research grants, visit our research page: http://ahckids.org/research/researchprojects
**We are dedicated to exploring collaborative projects that will result in advancements to understanding AHC and are devoted to finding a treatment and ultimately a cure. Look for additional project announcements early next year.

Building upon the past, thriving in the present and planning for the future

The foundation was founded in 1993 by parents of children with AHC. Five years later, in collaboration with top AHC researchers, the AHCF established an international registry and database to help document clinical outcomes and promote worldwide research efforts. Today this is the largest collection of AHC records and DNA samples in the world. For two decades the AHC Foundation has funded research and provided steadfast support to the AHC community on a national and international level.
AHC is a devastating disease that is difficult to diagnose and even more challenging to treat. We devote vigorous efforts to education and increasing awareness of AHC so that proper diagnosis may occur as early as possible. AHCF helped support the making of the AHC documentary “Human Time bombs” which brings AHC awareness to an international audience.

Family meetings are coordinated biennially by the foundation to provide AHC families with an incredible and unique opportunity. Patients from the United States and around the world have the chance to experience free medical appointments with a variety of AHC experts. During the conference, world renowned physicians and specialists speak about the latest AHC research and topics that have an impact on living with AHC on a daily basis. Most importantly they have the opportunity to socialize and bond with other families facing the same challenges of raising an AHC child. Many AHC kids become lifelong friends. Save the date for the next Family Meeting in NJ, the third week of June 2018!

Engaging Researchers and International Advocacy

The Symposium on ATP1A3 in Disease is organized by a coalition of organizations with the purpose of bringing researchers together to discuss all diseases associated with the ATP1A3 gene. During the last fifteen months, the foundation issued grants for researchers to attend the symposium, as well as AHCF officers who attended the last two symposiums.
President Lynn Egan traveled to Washington, DC in August 2015 to participate in the 4th Symposium n ATP1A3 in Disease. Presentations ranged from the explanation of how NIH funds are applied in rare disease, preparing for clinical trials, discussing different manifestations of AHC, engineering mouse models, and new phenotypes of novel ATP1A3 gene mutations.

At the Fifth Symposium on ATP1A3 in Disease, Secretary Vicky Platt represented the foundation in London, England in August 2016.  She spoke during the meeting and shared a parent’s perspective to help keep the needs of AHC patients’ front-and-center during the symposium.
It is not only important to attend and hear about the latest research, but to support the collaborative efforts of researchers working on AHC-related projects. Commonalities and overlaps in each ATP1A3-related disease mean that breakthroughs in any one of them could lead to advancements for all.

Research Progress – Engaging the next generation

Research holds the key to finding treatment options and a cure for AHC and ATP1A3-related diseases. This past year, our collaborative group of researchers and clinicians successfully taught many interested physicians, fellows and medical students about AHC. Their efforts helped strengthen and develop the research pipeline with creative and engaged scientists.
Some of these young and energetic medical professionals are doing internships alongside the best AHC clinicians, writing their thesis on AHC, and working in research labs to gain to gain an insight to a disorder they find intriguing. Gene Andrasco, AHCF Treasurer spoke to Northwestern University Medical Students about AHC.

Raising Funds

With the needs of the AHC patients in mind, the AHCF works tirelessly to raise funds through the generosity of Private donations. We mentor those individuals and families who raise money on our behalf and work to build on this momentum every year. The AHCF had another successful year of fundraising through a combination of a major donor grant, family run fundraisers, family honorarium pages on our website, and other events. The generosity of our donors has enabled the Foundation to continue on the path to a cure.
AHCF has launched a foundation wide, year end campaign called “Step Up To END AHC!” Enlisting the help of AHC families and friends we hope to raise $150,000 toward the next research step. For a list of fundraisers, donors and our financial standing, go to ahckids.org.
AHCF will continue to lead the fight against AHC, ensuring that the needs of AHC families around the world are met with expertise, consistency, and compassion! Check our website and Impact Statement for our planned initiatives for 2016 – 2017!  

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