NEWS
DECEMBER 2017
25 December 2017
CHRISTMAS 2017 - RESEARCH AND CARE FOR THE ATP1A3 RARE PATIENTS
MESSAGE FROM THE IAHCRC SCIENTIFIC COORDINATOR TO THE MEMBERS OF THE CONSORTIUM
Dear all
The message from Rosaria, updating us about the activities and Studies of the Consortium, is an opportunity for me to wish you all, and to your dears and families, a Happy Holidays and the very best for 2018.
An opportunity also to thank Rosaria (Rosaria Vavassori, IAHCRC Data Manager) for her tireless efforts to keep the Consortium active despite the lack of significant funding, Mohamad (Mohamad Mikati, IAHCRC Deputy Coordinator) for his leadership in the OBSERV-AHC Study and his contributions to the Consortium, the patient associations that support it and all those involved in AHC care and research.
The families having a child with AHC are worried. Unfortunately nobody can tell when a really breakthrough treatment will become available. Even if this was soon the case, nobody can tell to what extent children already suffering from this rare disease would really benefit.
However, the families courageously keep supporting our efforts and this is the main reason we should maintain them.
What was achieved during the last 10 years or so is not negligible.
Practically every child neurologist, no matter where he/she practices, is now aware of this devastating rare disease and can suspect the diagnosis much earlier.
For various reasons, this is not the case for all rare disorders. If it was achieved for AHC it is because strong collaborations were established between the patient associations and those health care providers and researches that committed themselves to keep working in this field.
Earlier diagnosis of more patients led to a much better knowledge of the natural history of this very complex disorder, although a lot remains to be understood.
We still need to discover the underlying mechanisms of the highly complex paroxysmal non-epileptic manifestations and their evolution over time. We still need to understand the cycle of breakthrough epileptic seizures and episodes of severe status epilepticus, etc.
But again, what was achieved already led to better care practices; alerted us on issues related to cardiac risks; taught us how to better manipulate existing anti-seizure drugs in this disorder; allowed the definition of emergency care protocols.
In parallel, genetic research based on the above mentioned clinically homogeneous cohorts, has shown that mutations that modify the protein-sequence of ATP1A3 play a major role in AHC.
Unavoidably this highly important discovery raised hope for better treatments to come. But this usually takes time, too much time particularly if someone is the parent of a child with AHC. A feeling of disappointment that any parent can fully understand.
However, although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained already.
It is our duty to patiently keep explaining this to the families and to support the children and their families the best we can within the limits of our current knowledge.
New initiatives, such as the OBSERV-AHC Study, keep the momentum going, ensure progress for a better understating of the disease but also progress towards better care practices.
Merci and warm regards to all.
Alexis Arzimanoglou, Scientific Coordinator of the IAHCRC International Consortium
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OCTOBER 2017
16 October 2017
PRESS RELEASE OF THE IAHCRC CONSORTIUM
THE IAHCRC-CLOUD PLATFORM, A PROJECT OF THE IEMEST INSTITUTE (Palermo, Italy)
The IAHCRC International Consortium is a network of Clinical Centers, Research Laboratories and Scientific Organizations in Europe, North America, Asia and Australia, with active involvement in the research and in the care for the ATP1A3 rare diseases.
All the IAHCRC Centers have an interest to work in collaboration according to common rules defined in the Charter of the Consortium for the sharing of data, information and resources, and according to formats and methods defined by the IAHCRC Standardization Workgroups in compliance to the international standards. They also work in close collaboration with the patient associations and with external scientific and mixed organizations.
The Euro-Mediterranean Institute of Science and Technology (IEMEST, www.iemest.eu), based in Palermo, is a no-profit research organization, recognized by the Italian Ministry of Education, University and Research (MIUR) and registered at the National and European Registries for research institutions. In 2012, it received the recognition of legal personality and in 2014 the Award “HR - Excellence in Research” from the European Commission.
In pursuing its statutory objectives, the IEMEST has recently decided to support the development of the research on the ATP1A3 rare diseases and of a better healthcare for the affected patients, by becoming active member of the IAHCRC Consortium.
As such, last July 2017 it launched the IAHCRC-CLOUD Project, for the establishment of an international Platform serving the collaborative studies and initiatives carried out by the IAHCRC Consortium in collaboration with its supporting partners, both at the national and international levels.
The IAHCRC-CLOUD Platform, will be operational by next January 2018, hosted by IEMEST, based on the RedCap© Electronic Data Capture Tool. The Platform, implementing the principles and methodologies of the platform cooperativism and patient engagement, can be considered as a second generation Rare Disease Registry, allowing the secure and informed data collection and sharing by all the stakeholders involved in the research and health-care process: patients, physicians, researchers, scientific and academic organizations, public healthcare institutions and services.
Dr. Rosaria Vavassori, founder and past president of the Italian Patient Association for AHC and current Data Manager of the IAHCRC Consortium, coordinates the IAHCRC-CLOUD Project for the development and management of the Platform. The Project is carried out by the IEMEST Informatics Team directed by Professor Giosuè Lo Bosco, with the supervision of Professor Francesco Cappello, Scientific Director of the Institute.
In the short term, the Platform will serve the OBSERV-AHC Study, a Prospective Observational Natural History and Therapy Study on AHC that will be launched in the first quarter 2018, with the Scientific Coordination of Professor Mohamad Mikati, at the Duke University, School of Medicine, Durham, NC, USA. Prof. Mikati is the Deputy Coordinator of the IAHCRC Consortium; Prof. Alexis Arzimanoglou, at the University Hospital of Lyon, France, is its Scientific Coordinator.
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Both the IAHCRC-CLOUD Project and the OBSERV-AHC Study are sponsored by the main patient associations for AHC, in USA (Cure AHC, www.cureahc.org), France (AFHA, www.afha.org), Great Britain (AHCUK, www.ahcuk.uk ), Holland (AHC Vereniging Nederland, www.ahckids.nl) and Iceland (AHC-Iceland, www.ahc.is). All these associations, together with others that are members of the International Patient Alliance AHCIA (www.ahcia.org) are also actively involved in the design, management and logistical support for both projects.
The IEMEST Institute, in the person of its President Professor Bartolo Sammartino, joins the IAHCRC Scientific Coordinators to thank all these associations heartily, for their precious support in pursuing the common goal of an effective treatment for all the patients affected by the ATP1A3 rare diseases, and for a better quality of life for all of them.
Other sponsors, with an interest to support these international projects on the rare diseases related to the ATP1A3 gene, would be more than welcome and we invite them since now to contact Dr. Rosaria Vavassori at This email address is being protected from spambots. You need JavaScript enabled to view it.
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Red the Full Version of the Press-Release
SEPTEMBER 2017
30 September 2017
THE IAHCRC CONSORTIUM AT THE 6TH SYMPOSIUM ON ATP1A3 IN DISEASE
The Sixth Symposium on ATP1A3 in disease took place in Tokyo last September 21-22.
Many IAHCRC members of the IAHCRC Consortium participated, to present their research projects, share ideas and search for new collaborations.
Dr Simona Balestrini (University College of London, UK) presented the preliminary results of the IAHCRC Study about the Cardiac Involvement in ATP1A3-related Syndromes, coordinated by Prof. Sanjay Sisodiya.
Prof. Arn van den Maagdenberg (University of Leiden, the Netherlands) spoke about the ongoing IAHCRC Project for the search of the secondary gene(s) for AHC.
Dr. Eleni Panagiotakaki (University Hospitals of Lyon, France) presented the results of the IAHCRC Study of the genotype-phenotype correlations in AHC, published on the European Journal for Rare Diseases.
There was also the opportunity to talk about the imminent launch of the OBSERV-AHC Study, coordinated by Prof. Mohamad Mikati (Duke University, Durham, NC, USA), a Prospective Observational Natural History and Therapy Study on AHC.
The data collection for the OBSERV-AHC Study will be served by the IAHCRC-CLOUD Platform, which is currently under development at the I.E.ME.S.T Institute for Science and Technology (Palermo, Italy) co-funded by four main patient associations for AHC.
For further information about the Sixth Symposium on ATP1A3 in Disease, visit the official website
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10 September 2017
NEW PUBLICATIONS ABOUT THE MANAGEMENT OF AHC
Recently two main articles have been published by the AHC Clinic directed by Prof. Mohamad Mikati at the Duke University (Durham, NC USA), with the support of the Patient Association Cure AHC. The AHC Clinic is the Coordinating Center of the IAHCRC Node in the United States.
Motor function domains in alternating hemiplegia of childhood.
Masoud M, Gordon K, Hall A, Jasien J, Lardinois K, Uchitel J, Mclean M, Prange L, Wuchich J, Mikati MA
Dev Med Child Neurol. 2017 Aug;59(8):822-828.read the article
Diagnosis and Treatment of Alternating Hemiplegia of Childhood.
Masoud M, Prange L, Wuchich J, Hunanyan A, Mikati MA
Curr Treat Options Neurol. 2017 Feb;19(2):8. read the article
In the European Database for Rare Diseases – ORPHANET, the Emergency Instructions about the management of the most severe AHC episodes are available in French, prepared by the Coordinating Center of the IAHCRC Node in France (at the University Hospital in Lyon), in collaboration with the Patient Association AFHA. read the document
Although important and useful in themselves, all these documents are also part of the IAHCRC Strategy for the development of the International Guidelines for the Assistance to the ATP1A3 Rare Patients, that will be published soon.
JUNE 2017
13 June 2017
FOUR PATIENT ASSOCIATIONS FUND THE INTERNATIONAL AHC REGISTRY
AHC Vereniging Nederland, AHC UK Support Group, Cure AHC (USA) and the AHC Association of Iceland have joined forces to fund the IAHCRC-CLOUD Platform, which will be operated by the IAHCRC Consortium in collaboration with patient driven AHC associations. This project is coordinated by the IAHCRC Data Manager Dr. Rosaria Vavassori and will be crucial for new studies, trials and collecting of information for the international AHC community.
The IAHCRC-CLOUD Platform is being developed and is hosted by the IEMEST Institute (Palermo, Italy) on behalf of the IAHCRC Consortium. It can be considered as a second generation Rare Disease Registry, based on the use of PaaS (Platform as a Service) software, which allows a peer sharing of research data, in a controlled and secure way, by all the involved stakeholders: patients, physicians, researchers, scientific and academic organizations.
The Platform will serve all the studies and Projects of the IAHCRC Consortium, and first of all the Study OBSERV-AHC (Prospective Observational Natural History and Therapy Study) proposed by Professor Mohamad Mikati, that will be launched soon.
Many heartfelt thanks to these four patient associations for their support to the studies of the IAHCRC Consortium and for their will to collaborate with all its members in the common effort to develop the research on AHC and all the ATP1A3 diseases, towards the final goal of an effective treatment.
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MAY 2017
14 May 2017
IAHCRC GENERAL ASSEMBLY 2017 and STUDY OBSERV-AHC
The IAHCRC General Assembly 2017 will take place next Tuesday, May 16th, via teleconference.
The IAHCRC members will also have a preliminary discussion about the project planning for the Study OBSERV-AHC, presented by Professor Mohamad Mikati to the AHCIA Patient Alliance last March.
The Study is based on an extensive data collection in the IAHCRC-CLOUD Platform, from both the patients and the referent clinicians.
Special thanks to Cure AHC for providing the teleconference service and for their continued support to the acivities and studies of the IAHCRC Consortium.
And many thanks in advance, to all the patient associations that will decide to co-fund the OBSERV-AHC Study, a cornerstone for any future clinical studies, advances and interventions in AHC.
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FEBRUARY 2017
2 - 3 February 2017
THE IAHCRC CONSORTIUM AT THE 5TH SYMPOSIUM ON PAEDIATRIC MOVEMENT DISORDERS
(Barcelona, 2 - 3 February 2017)
The IAHCRC Consortium will be presented by its Scientific Coordinator Prof. Alexis Arzimanoglou, at the 5th International Symposium on Paediatric Movement Disorders. Dr. Eleni Panagiotakaki will present the clinical spectrum of ATP1A3 gene mutations.
For more information about the Symposium, consult its Website
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JANUARY 2017
18 JANUARY 2017
THE DOCUMENTARY ABOUT AHC "HUMAN TIMEBOMBS" AVAILABLE IN 10 LANGUAGES ON THE DEDICATED WEBSITE
On the occasion of the International AHC Day, the new Website dedicated to the docu-film about AHC HUMAN TIMEBOMBS has just been opened. You can watch it in 10 languages.
The film was produced by the the Association AHC Iceland, on behalf of the AHCIA International Alliance of the Patient Representatives. By making Human Timebombs public, their hope is to help AHC families worldwide to get more understanding from people in their community. They also hope that more children will obtain an early and correct diagnosis because of the film and that more doctors and researchers will get interested in helping the AHC community to find a treatment for this rare, complex and devastating disease.
Please, visit the Website and spread the news!
18 JANUARY 2017
INTERNATIONAL AHC DAY
The international community of researchers, clinicians and families, working together everyday to find a cure for Alternating Hemiplegia of Childhood (AHC), celebrate the AHC DAY 2017 on January 18th.
Exactly five years ago, the ATP1A3 gene was discovered as primary cause of AHC.
Visit the Website of AHCIA, the International Alliance of the AHC patient representatives.
NOVEMBER 2016
30 October 2016
THE IAHCRC SCIENTIFIC COORDINATORS ELECTED FOR THE BIENNIUM 2017 - 2018
As determined by the Charter of the IAHCRC Consortium, the elections of the IAHCRC Scientific Coordinators for the biennium 2017 - 2018 took place during the last months of October and November.
The elections were conducted in full observance of the Internal Operating Procedure OPELCC Version V1.0 approved by the IAHCRC Assembly.
The Member Centers of the IAHCRC Consortium confirmed Professor Alexis Arzimanoglou (University Hospital of Lyon, France) as IAHCRC Scientific Coordinator and Prof. Mohamad Mikati (Duke University, School of Medicine, Durham, NC, USA) as IAHCRC Deputy Coordinator for the biennium 2017 - 2018.
Many thanks to Prof. Arzimanoglou and Prof. Mikati for accepting to continue the scientific coordination of the IAHCRC Consortium, with the aim to make it more stable and effective in the development of the collaborative research on AHC and all the ATP1A3 related diseases.
Special thanks to all the IAHCRC members worldwide, for their continued and invaluable contribution to the progress of the research on the ATP1A3 diseases, towards the final goal of an effective treatment and a better healthcare for all the affected patients.
All the clinical and basic research centers that are interested to join the IAHCRC Consortium, are kindly invited to contact its Scientific Coordinators through the IAHCRC Website or by sending an email to This email address is being protected from spambots. You need JavaScript enabled to view it..
OCTOBER 2016
26 October 2016
THE IAHCRC-CLOUD REGISTRY PLATFORM PRESENTED AT THE EUROPABIO's PATIENTS BIO-FORUM
(Brussels, 26 October 2016)
EuropaBio’s Patients Bio-Forum is a closed-door event which gathers representatives from patients groups and industry as well as other stakeholders (e.g. regulators, policymakers, academics, etc.) to discuss patient-centered issues in healthcare biotechnology. This recurring event allows stakeholders to present their perspectives on a given topic, while engaging in constructive and inquisitive round-table discussion.
The goal of the Patients Bio-Forum is to create a platform where all participants can share their learnings and challenges regarding the topic of choice, and to come away with a better understanding of how their counterparts perceive such issues.
EuropaBio is proud to host the October Patients Bio-Forum with the title of “Patient Registries: how to use and optimize them?”.
Patient registries have long been used in academic settings to generate observational data for research purposes. However, there has been a recent shift towards utilising patient registries for more than just traditional recruitment or sample collection, and towards opportunities to explore population behaviour, product usage as well as monitoring quality of healthcare. With the multitude of different types of registries that exist today, it is important that we optimise the use of these patient registries and understand the link between the importance of setting up high quality registries with different steps of the drug development cycle.
At the Patients Bio-Forum, the IAHCRC-CLOUD Registry Platform will be presented, a network of interconnected Registries serving the International Studies of the IAHCRC Consortium. Read
SEPTEMBER 2016
13 September 2016
The ATP1A3 diseases at the 12th European Congress on Epileptology
(Prague, 13 September 2016)
The members of the IAHCRC Consortium chaired and gave presentations at the Parallel Session dedicated to the ATP1A3 diseases, during the 12th European Congress on Epileptology organized in Prague by ILAE on 11 - 15 September 2016 link
JULY 2016
21 July 2016
IAHCRC Workshop joint to the 5th Symposium on ATP1A3 in disease
for the validation of a new set of Common Data Elements about the Paroxysmal Events and Developmental Skills in AHC
by Mohamad Mikati, IAHCRC Deputy Coordinator - Duke University, USA
London, Holiday Inn London Bloomsbury
24 August 2016, 17.00 - 19.00 (before the start of the welcome buffet of the Symposium)
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Since the discovery of the gene ATP1A3 as primary cause of AHC in 2012, the researchers involved in the study of the ATP1A3 rare diseases gather with all the stakeholders worldwide at the annual edition of the International Symposium on ATP1A3 in disease.
The Fifth Edition of the Symposium will take place in London, hosted at the National Institute of Neurology (University College London) by Professor Sanjay Sisodiya and Professor Helen Cross, members of the IAHCRC Consortium. Professor Sisodiya is the coordinator of the current IAHCRC Study about the heart disturbances in the ATP1A3 diseases.
A Workshop reserved to the IAHCRC members has been organized joint to the Symposium, with the aim to validate the new set of Common Data Elements (CDE’s) about the Paroxysmal Events and Developmental Skills in AHC. The new CDEs have been proposed by Prof. Mohamad Mikati, Deputy Coordinator of the IAHCRC Consortium, and his team of the AHC Clinic at the Duke University, Durham NC, USA.
A discussion for the finalization of the proposal, in view of its final validation at the Workshop, is taking place in the IAHCRC Forum, with the contribution of some patient representatives.
Once validated by the IAHCRC Consortium, the new CDE’s, will eventually become a standard tool for the comprehensive clinical care and follow-up for the AHC patients; they will also be used as a basis for the development of future IAHCRC Studies, in particular for large-scale trials on specific diagnostic or treatment questions.
We heartily thank the American Patient Association Cure AHC, that kindly accepted to sponsor the Workshop.
Many thanks to the English Patient Association AHCUK, for their organizational support.
For more information about the Fifth Symposium on ATP1A3 in disease (London, 24 - 26 August 2016), visit the official website
MARCH 2016
11 March 2016
IAHCRC PUBLIC COMMUNICATION N. 03-2016
ACTIVITY PLAN JANUARY – JUNE 2016
Alexis Arzimanoglou, Scientific Coordinator; Mohamad Mikati, Deputy Coordinator;
Eleni Panagiotakaki, Phenotyping Standardization Workgroup Leader; Rosaria Vavassori, Data Manager
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Last October 2014, the IAHCRC International Consortium was created as a coordinated network of clinical centers and basic research labs, to carry out large-scale studies based on common collaboration rules and on common elements, formats and methods for the data and information sharing.
During this first year of life, the results of the first IAHCRC studies have been published on prestigious journals; some new studies and initiatives have been launched and many more have been planned for this current year.
The IAHCRC Common Data Elements have been defined by the Standardization Workgroups, adopted by the IAHCRC Studies carried out so far, and new datasets are going to be added for more specific studies and surveys.
Now, it has become strategic for the Consortium to involve all its members more deeply in all these initiatives, to reinforce our internal collaboration and cohesion as a group and to make our role and contribution clearer towards the ATP1A3 in disease community, as well as towards the whole scientific and health communities for rare diseases. We would also create new collaborations with all interested research groups, supporting partners and stakeholders.
With these objectives, we have planned many activities to carry out in this first semester 2016 with the support of the main patient associations for AHC. Among such initiatives, the development of the IAHCRC-Cloud Service, for the on-line data collection and sharing for the collaborative studies of the Consortium. The service is developed by the IEMEST Research Institute – Italy, an IAHCRC member Center.
We are also creating the on-line IAHCRC Forum, to facilitate the participation to the discussions about the main topics identified by the Standardization Workgroups and the contribution to the related activities. The Forum will be accessible by all the IAHCRC members and, upon invitation, also by external researchers, patients and any other stakeholders. Finally, we have scheduled the annual IAHCRC General Assembly in June, as the highest expression of participation and of collaboration, for the harmonic and positive contribution of all the IAHCRC members to the development of the research on AHC and all the ATP1A3 diseases.
If you need further information about the activities and studies of the Consortium, or are interested to join it, or want to propose new kinds of partnership and common initiatives, please, do not hesitate to contact us through our website.
Alexis Arzimanoglou, Mohamad Mikati, Eleni Panagiotakaki, Rosaria Vavassori and all the members of the IAHCRC Consortium
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Read the pdf version of the IAHCRC Communication
OCTOBER 2015
01 October 2015 - The results of the first large-scale Study of the IAHCRC Consortium about the Genotype-Phenotype Correlations in AHC, have been published in the Orphanet Journal of Rare Diseases.
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The study is based on the intensive collection of the clinical and genetic data of 155 AHC patients from 9 different countries. The less frequent AHC-causing mutations of the ATP1A3 gene are grouped in clusters and their associated clinical features are analyzed in detail. |
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AUGUST 2015
21 August 2015
A NEW ARTICLE ABOUT AN INTERNATIONAL STUDY OF THE HEART DISTURBANCES IN ALTERNATING HEMIPLEGIA OF CHILDHOOD (AHC) HAS BEEN PUBLISHED IN THE SCIENTIFIC JOURNAL BRAIN
Editorial comment and some follow up recommendations from the Coordinator of the Study Prof. Sanjay Sisodiya (University College of London, UK)
"As has always been clear, AHC is a complex condition. The discovery of its genetic cause has started to shed light on how the various aspects of the condition arise. It is important to understand all the different aspects of the condition, so that the best care can be provided to those who have AHC. We know that the main organ of the body involved in the effects of AHC is the brain.
A number of indicators pointed to possible involvement of the heart. One simple, painless and non-invasive way to look at the way the heart is working is the ECG (electrocardiogram, also known as an EKG). We therefore studied the ECG in people with AHC, and compared the findings to ECG records from people with epilepsy but without AHC and to well-known findings from healthy people. We found that some changes in the ECG were more commonly found in people with AHC than in healthy people, or people with epilepsy, suggesting that the changes relate directly to AHC.
These findings are an indication that AHC may affect the heart as well as the brain.
These findings are important, but not a cause for alarm.
We think that the findings should lead to a proper evaluation of heart function in people with AHC, especially in older people with the condition. Such an evaluation could include, for example, review by a cardiologist, perhaps with an ECG, an echocardiogram (a non-invasive, painless, ultrasound examination, to look at the structure of the heart) and longer monitoring of the ECG. Our findings are freely available on the BRAIN Website, and people with AHC, their families and carers might wish to discuss our findings with their specialists.
We are continuing to further explore our initial findings so that we can better understand how AHC might involve the heart, and so that we can provide better advice to people with AHC and their families, carers and doctors.
We are putting together more information about the heart in AHC and we are currently running a follow-up study, which any doctors caring for people with AHC are invited to join, by contacting the Coordinator of the Study at This email address is being protected from spambots. You need JavaScript enabled to view it..
It is important that we continue to look into how the heart may be involved in AHC, because our initial findings suggest that any involvement may require careful evaluation by heart specialists and may also lead to advice on drugs that should perhaps be avoided in AHC."
The Article is available for Open Access on the BRAIN Website at this link
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Read the pdf version of the Editorial Comment
JULY 2015
29 - 31 July 2015 - The IAHCRC Consortium at the International Conference "Hands On: Biobanks 2015" (Milan, Italy, 29th - 31st July 2015)
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A poster presentation of the IAHCRC Consortium was accepted at the International Conference "Hands On: Biobanks 2015" that took place at Milan EXPO from July 29th to July 31st www.handsonbiobanks.org |
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JUNE 2015
30 June 2015 - Since 2012, the researchers involved in the study of the ATP1A3 diseases gather with all the other stakeholders worldwide at the annual edition of the International Symposium on ATP1A3 in disease.
The Fourth Edition of the Symposium will take place in Washington, DC USA, next 27 – 29 August 2015. The Symposium is chaired by the team of one of the IAHCRC research centers, at the Columbia University, New York NY, in collaboration with the American Patient Association CureAHC. Many other researchers of the IAHCRC Consortium are contributing to the Symposium, as members of its Scientific Committee and as speakers, to present their research work on AHC and on the other ATP1A3 diseases.
A meeting of the IAHCRC members is being organized joint to the Symposium, with the aim to move the current collaborative studies of the Consortium forward, to launch new studies and to involve many more researchers and supporting partners worldwide.
The IAHCRC meeting will take place on Friday 2015, August 28th, at 6.30 pm, at the end of the sessions of the Symposium at the same venue.
All the info about the Symposium and the joint events are available on the official website.
26 June 2015 - New article provides overview of patient involvement in biobanking. A group of patient representatives, researchers and biobanking operators (including Rosaria Vavassori, Founder and Past President of the Italian Patient Association for Alternating Hemiplegia of Childhood and Data Manager of the IAHCRC International Consortium) have published an article on the process of involving patients in biobanking activities. The review was published in the first edition of the new open-access journal “Research Engagement and Involvement”.
The case report "I.B.AHC - Italian Biobank and Clinical Registry for AHC" is included in the article, a project designed, coordinated and funded by the Italian Association in collaboration with its Scientific Committee. The IAHCRC Consortium is also introduced, as a network of homogeneous Clinical Registries and linked Biobanks at the national level, based on the I.B.AHC model of a joint governance by the patients and the researchers.
The article is available for open access at www.researchinvolvement.com/content/1/1/4
APRIL 2015
27 April 2015 - Professor Steven Petrou, at the Ion Channels & Disease Group, Epilepsy Division of the Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia, joined the IAHCRC Consortium as regular member. He will collaborate with professor Mohamad Mikati for a new project of the Modeling Standardization Workgroup.
10 April 2015 - Professor Mohamad Mikati, at the Duke University School of Medicine, Durham NC USA, kindly accepted to take the role of Deputy Coordinator of the IAHCRC Consortium. He will support Professor Alexis Arzimanoglou in the coordination of the activities of the Consortium and in all his functions of Scientific Coordinator.
JANUARY 2015
20 January 2015 - In an article published online in Dec 2014 in Epilepsia, authors Hunanyan et al. reported on the development and characterization of a novel knock-in mouse model carrying the most common mutation associated with AHC (D801N). Their mouse model reproduces all the major characteristics of human AHC including paroxysmal hemiplegic and dystonic spells, abnormal gait, memory deficits, impulsivity and spontaneous recurrent seizures. Moreover, in vitro electrophysiologic slice experiments on hippocampal slices demonstrated that these mice are predisposed both to hyperexcitability (epilepsy) and spreading depression (hemiplegia) as compared to wild-type littermates. Link to article in PUBMED: www.ncbi.nlm.nih.gov/pubmed/25523819
This video shows how the developed knock-in mouse model is remarkably accurate in matching the symptoms found in humans with the D801N mutation.
18 January 2015 - The World Patient Alliance AHCIA celebrated the Third International AHC Day with the slogan "Research gives hope". See also the short video on the website of the Alliance www.ahcia.org/research-gives-hope
7 January 2015 - the Scientific Coordinator Professor Alexis Arzimanoglou and the Data Manager of the IAHCRC Consortium met via TC, the patient representatives members of the International Alliance AHCIA, to present the Consortium and to discuss ways of collaboration and support to its activities and studies.
All the basic researchers and clinicians members of the IAHCRC Consortium highly believe in the positive contribution of the patients to the progress of the research on their ATP1A3 rare diseases and to the improvement of their health and social assistance, thanks to a mutual empowerment and a fair collaboration with them.
In particular, the patient associations can support the IAHCRC Consortium as not only funders, but also as active partners for the profitable, informed and ethic inclusion of the patients in its research projects and for the fast and efficient translation of the research results and information into the practices of the national health and social systems. link
DECEMBER 2014
11 December 2014 - the Data Manager Dr. Rosaria Vavassori, together with Dr. Elisa De Grandis of the Scientific Institute G. Gaslini, presented the IAHCRC Consortium at the professional training course "Neurological Pediatric Rare Diseases: Update on Research, PDTA’s and Related Disabilities" in Genoa, Italy. The course was directed by Professor Edvige Veneselli, head of the Department of Child Neuropsychiatry of the G. Gaslini Scientific Institute and Hospital, University of Genoa, Italy.
NOVEMBER 2014
24 November 2014 - the Data Manager Dr. Rosaria Vavassori, with the Scientific Coordinator Professor Alexis Arzimanoglou as co-author, presented the IAHCRC Consortium at the Third International EPIRARE Workshop - Rare Disease and Orphan Drug Registries, organized in Rome by the National Center for Rare Diseases and the National Health Institute.
OCTOBER 2014
22 October 2014 - the Assembly of the founding members was summoned to review and approve the Charter of the IAHCRC Consortium.
The final IAHCRC Charter Version 1.1 was then validated definitively on November 14th, 2014 and the IAHCRC Consortium was officially created on that date (press release). Soon after that, two new Centers joined the Consortium as full members.
AUGUST 2014
30 August 2014 - The IAHCRC Consortium was presented for the first time at the Third Symposium on ATP1A3 in disease (Lunteren, NL, 29 – 31 August 2014), by the Data Manager Dr. Rosaria Vavassori (presentation).