Short Communication, J Genet Disor Genet Rep Vol: 4 Issue: 2
Ring14 International:Development of a National-Based Patient Association towards a “Global†Network Initiative to Fight a Chromosomal Disorder
| Stefania Azzali1, Yssa DeWoody2, Berardo Rinaldi3 and Marco Crimi1* |
| 1Ring14 International, Headquarter, Via Santa Maria alla Porta, 2-20124 Milan, Italy |
| 2Ring14 International, USA chapter, 4313 Wood Dr., Midland, TX 79707, USA |
| 3University of Pavia, Department of Molecular Medicine, Via Forlanini 14-27100 Pavia, Italy |
| Corresponding author : Marco Crimi, PhD Ring14 International, Headquarter, Via Santa Maria alla Porta, 2-20124 Milan, Italy Tel/Fax: +39 0522 421037 E-mail: crimi.marco@ring14.org |
| Received: July 01, 2015 Accepted: July 30, 2015 Published: August 06, 2015 |
| Citation: Azzali S, DeWoody Y, Rinaldi B, Crimi M (2015) Ring14 International: Development of a National-Based Patient Association towards a “Global” Network Initiative to Fight a Chromosomal Disorder. J Genet Disor Genet Rep 4:2. doi:10.4172/2327-5790.1000124 |
Abstract
Ring14 International:Development of a National-Based Patient Association towards a “Global” Network Initiative to Fight a Chromosomal Disorder
Chromosome 14 syndromes are rare genetic disorders. In some cases, one of the two chromosomes assumes the form of a ring resulting in “Ring14 syndrome,” characterized by early onset refractory epilepsy, motor and mental retardation, and a multitude of other physical challenges. In other chromosomal syndromes, the 14th pair loses or transfers genetic material (deletions or duplications) but often share a similar clinical picture. Ring14 Association, founded in Italy in 2002, has recently evolved into Ring14 International to facilitate the networking of different local chapters located worldwide with the mission to advance biomedical research towards best care and possible cure.
Keywords: Ring chromosome 14; Chromosome 14 syndromes; Rare genetic disease; Patient advocacy group; Promotion of scientific activities
Keywords |
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| Ring chromosome 14; Chromosome 14 syndromes; Rare genetic disease; Patient advocacy group; Promotion of scientific activities | |
Introduction |
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| A group of families with children suffering from a rare genetic disease, called Ring14 Syndrome, founded Ring14 Italy as a nonprofit organization in Reggio Emilia in May 2002. Ring14 Syndrome results from a circularization (ring) of the 14th chromosome, a genetic anomaly caused by the loss of chromosome distal ends and fusion of remaining portions [1]. Ring14 Italy choose to advocate for this syndrome and, indeed, all syndromes arising from anomalies on the 14th chromosome and has, for last ten years, successfully tried to improve the quality of life for all affected patients and their families. | |
| Currently there are no effective therapies, there is no cure for these syndromes and families, and doctors have few tools at their disposal to establish a comprehensive description of symptoms and determine best treatments. Our organization has been the only reference point for hundreds of families around the world: we are present in five continents, 23 countries and we communicate in five languages. In addition to providing support to the families as they care for their children, Ring14 Italy has also promoted and funded biomedical research for rare diseases - a key role of patient advocacy organizations [2]. Since its founding, Ring14 Italy has consistently sustained and supported scientific projects. Indeed, Ring14 Italy has sponsored ambitious basic-science projects, such as the creation of Ring14 models (i.e. the first mouse model or stable iPS cell lines) and the gene expression profiling of immortalized Ring14 cells, as well as funding phenotypic [3,4] and language development [5,6] studies. | |
Ring14 International |
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| About a decade later, these medical advances inspired the creation of Ring14 International, founded in 2014, through the merging of Ring14 Italy and Ring14 USA. The aim of this new organization is to promote the creation and coordinate the action of independent national chapters, which gather individual families from single countries. In particular, all research initiatives will be organized, funded and managed at the international level. | |
| This new organizational structure will help assist families, divulge information better, and allow us to administer our resources more efficiently. This year, chapters representing other countries, such as France, United Kingdom, Spain and Netherlands have joined Ring14 International and many others are expected in future (Figure 1). Ring14 International, founded by families of people affected by the Ring14 Syndrome, aims to become the leading advocacy association representing any person affected by a 14th chromosomal rearrangement, even the most rare (and often nameless) syndromes. | |
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Figure 1: The development of Ring14 International as an umbrella organization of local chapter worldwide sited. |
| Scientific advisory board | |
| In order to better promote research, Ring14 International has created an international Scientific Advisory Board (SAB) and appointed a scientific coordinator. The 1st SAB committee, which will be renewed on a 3-year basis, is chaired by Prof. Giovanni Neri (Università Cattolica in Rome, Italy) and composed by Profs. Pietro DeCamilli (Yale University, USA), Andrew DeWoody (Purdue University, USA), Stylianos Antonarakis (University of Geneva, Switzerland), and Phil Hieter (University of British Columbia, Canada). The SAB together with the scientific coordination office will be responsible for managing world scientists in order to develop new treatments and cures for Ring14 and for defining new scientific strategies for future developments. | |
| Ring14 scientific activities | |
| Ring14 sponsors basic and translational research through its strong commitment to projects aimed at advancing scientific knowledge on chromosome 14 disorders (Figure 2). Ring14 International sets up scientific activities dedicated to strategic planning of research initiatives and management of the project selection process. This work is carried out in compliance with best practice methods and employs dedicated professionals with specific scientific expertise in these areas. All research-funding decisions are therefore subject to peer-review by our international SAB. | |
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Figure 2: The timeline (2002-to date) of the most relevant milestones achieved by Ring14 Italy. |
| Biobanks | |
| Biobanks are authorized centres that collect and store genetic material of patients and make it available to researchers around the world. In December 2009, Ring14 Italy signed an agreement with the Telethon Network of Genetic Biobanks (TNGB) for the collection of blood and skin samples of our patients and their relatives [7]. One of the Biobanks of the TNGB (the Galliera Genetic Biobank) now contains more than 300 biologic samples available to the international scientific community. | |
| Database of clinical information | |
| Ring14 also manages a database of clinical information collected from families. This database is extremely useful to help determine which symptoms might be related to these syndromes and to stimulate and develop translational research. The Ring14 database can be freely-accessed upon receiving a letter of intent/scientific project and is listed in several international research programs such as the FP7 RD-Connect project [8], which invited Ring14 International to join the “Core Implementation Group” [9]. | |
| Workshops | |
| The Association also organizes international workshops involving experts in the field of cytogenetics, molecular genetics, clinical applications and epilepsy with the aim of generating ideas and innovative approaches for the study of these diseases, and meetings/ holiday camps for families and patients. | |
| Set-up kit | |
| In order to facilitate the start-up of new national Ring14 Chapters, the International Association has developed and is offering a set-up kit that includes: | |
| a) A copy of articles of association and internal regulations that each National Chapter will adapt to the relevant legislation of its home country, | |
| b) A national website linked to Ring 14 International website, | |
| c) Basic training on fund raising activities, | |
| d) Ring14 personalised trademark and literature, | |
| e) Ring14 pamphlets, posters, gadgets, as well as other forms of merchandising to promote and facilitate fund raising activities, | |
| f) A local meeting with families and doctors. | |
| Future perspectives | |
| Future perspectives will focus on: | |
| a) Maintaining yearly calls for applications for international research grants, | |
| b) Organizing international workshops for researchers and meetings for families, | |
| c) Promoting biological samples and clinical data collections, | |
| d) Opening new Chapters all over the world. | |
Final Remarks |
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| The intent of this letter is to highlight how the advocacy work being done by a patient association can be expanded beyond just improving the visibility of an underdiagnosed orphan disorder. In fact, even a small group of patients, especially if internationally networked, can have a pivotal impact on stimulating excellent scientific activities, funding critical and innovative biomedical research, and encouraging clinicians to perform specific genetic tests to facilitate prompt diagnosis. | |
Competing Interests |
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| Ring14 International is a non-profit organization that raises funds through fundraising activities. The authors does not have any financial or non-financial competing interests to disclose. | |
Acknowledgements |
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| The authors would like to acknowledge Dr. Chiara Baldo, director of the biobank of the Galliera hospital (Genoa, Italy), and Dr. Mirella Filocamo, the TNGB coordinator, for their technical support and willingness to establish a fruitful collaboration for the Biobanking project. Corrado Fiscale Esq and his colleagues at Hogan Lovells for the legal and technical support provided in relation to the incorporation and set-up of Ring14 International, Prof. Vincent Corsentino for reviewing the English of the manuscript. | |
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