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October 10-13, 2008 / 10-13 Octobre 2008 Maison de la Mutualité, Paris - France Programme Abstract Book / Recueil des Résumés WITH THE SUPPORT OF / AVEC LE SOUTIEN DE : SUMMARY / SOMMAIRE - Welcome Messages Messages de Bienvenue P. 5 - Programme at a Glance Aperçu du programme P. 8 - Scientific Programme Programme Scientifique AKNOWLEDGEMENTS P. 16 / REMERCIEMENTS IRSF is the world’s largest private source of - Associations’ Presentations funds for biomedical and applied research Présentation des Associations of Rett syndrome. Research P. 47 Family Support IRSF is the largest and most comprehensive not-for-profi t organization for parents, scientists, interested professionals - Abstract Book Advocacy and others concerned with Rett syndrome. The mission of IRSF Recueil des résumés is to fund research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with P. 56 Rett syndrome by providing information, programs and services. - Biographies Annually, the IRSF organizes and hosts: • The IRSF Scientifi c Symposium: The world’s largest annual P. 103 meeting of leading Rett syndrome researchers and clinicians - General Information • The IRSF Family Conference: Families from across the globe Informations Générales come together to bond, learn and face the future together P. 107 4600 Devitt Drive Cincinnati, Ohio 45246 +1 513 874 3020 phone www.rettsyndrome.org +1 800 818 RETT (7388) toll free IRSF is proud to sponsor the 6th World Rett Syndrome Congress IRSF_ad_journal_082808.indd 1 8/29/08 4:25:28 PM «Two things are simple: to tell the past and predict the future. To see clear day by day is another task» « Deux choses sont simples : raconter le passé et prédire l’avenir. Y voir clair au jour le jour est une autre entreprise » Armand Salacrou, La terre est ronde (1937) Dear Friends PROGRAMME COMMITTEE ORGANISATION COMMITTEE We are delighted to welcome you in Paris for the 6th World Rett Syndrome Congress. PAGE DE PUB IRSF President President The clinical discovery of Rett disease by Andreas Rett (1966) and by Bengt Hagberg, Jean Aicardin Karin Dias and Ovidio Helen Leonard – Australia Christiane Roque – AFSR Ramos (1983) has been of great benefitNote for thepour patients. Patrick :Before IRSF_ad_journal_082808.pdf this discovery, Rett patients were wrongly considered as autism disorders or as varied progressive neurological diseases. The discovery of the clinical entity transformed the approach of the Members Vice-Presidents persons affected by this disease. Schahram Akbarian – USA Peter Huppke – Germany Yvonne Milne – RSE After more than 14 years of special interest for this disease, in 1999 Huda Zoghbi et al. made a crucial breakthrough, identifying Hayley Archer – UK Walter Kaufmann – USA Tony Horton - IRSF Nadia Bahi-Buisson – France the involvement of the gene on Xq28 « methyl CpG binding protein 2 (MECP2) » in Rett syndromes. Cases of Rett syndrome Janine Lasalle – USA with mutations of the gene on Xp22 « cyclin-dependent kinase-like 5 (CDKL5)” have also been reported. These discoveries Gordon Baikie – Australia Francesca Mari – Italy Members about the molecular basis of Rett syndromes became already powerful diagnostic tools to help the patients and the clinicians. Bruria Ben Zeev – Israel Alan Percy – USA Irène Benigni – France In addition to these immediate clinical benefits, the genic discoveries opened new avenues to understand deficiencies of brain Adrian Bird – UK Mercedes Pineda – Spain Märith Bergström-Isacsson – Sweden development in Rett syndromes and to think about new treatments and primary and secondary preventions of the disease. Sarojini Budden – USA David Ravine – Australia Rita Bernardelli – Italy Hilary Cass – UK Sheena Reilly – Australia Bill Callaghan – Australia The last two decades of research about Rett syndrome, so strongly supported by the Rett Syndrome Associations, stimulated also John Christodoulou – Australia Catherine Senez – France Monica Coenraads – USA animal and translational research on neuronal and network maturation, on gene transcription, and on other neurodevelopmental Jenny Downs – Australia Laurent Villard – France Oliviero Dell’oro – Italy mechanisms, relevant to Rett Syndrome and to many other neurodevelopmental diseases. Rett syndrome is a paradigm for Carolyn Ellaway – Australia Ingegerd Witt Engerström – Sweden Judith Hamann – Germany translational research. Each investment in this research may contribute to progresses against Rett disease and carries also important potential advancements for other neurodevelopmental defects. Susan Fyfe – Australia Xi-Ru Wu - China Ulf Hannel – Sweden Kathy Hunter – USA Kathy Hunter – IRSF The Greek text of the “Pierre de Rosette” permitted Champollion to discover the signification of hieroglyphs. The same Lorna Jaffa – UK happened to understand the code of the genome on the basis of genomes of human beings, normal and abnormal. New methods SCIENTIFIC COMMITTEE Nicoletta Landsberger – Italy of molecular genetics permit us, on animal models, to inactivate, to overexpress, permitting to alterate the « text » of the gene, a Michaela Mühlmann – Germany crucial step for further progress. I hope that the « egyptologic » comparison will introduce the participants who were not trained President Dirk Mühlmann – Germany in genetic research to the research reports by the colleagues who will present research results in this field which are supported Philippe Evrard – France Gérard Nguyen – France by the Rett Syndrome Associations. Paige Nues - IRSF I wish also to underline the extremely important clinical advance which derived from the joint programs between laboratory Vice-President Janusz Rozalski – Poland research, clinicians and carers. The scope of the Rett Syndrome has been initially restricted to caricatured clinical picture, Masaya Segawa – Japan Lynn Weeks – UK excluding many less typical patients. This clinical mistake became much less frequent since we benefit from the molecular progresses. I wish to thank all clinicians, research scholars, and associations of parents for their daily cooperation in this joint venture for Members Local Organisation Committee the benefit of Rett persons. This generosity imposes us also to share humbly the gaze so intense of sick children to rest on their Jean Aicardi – France Thierry Bienvenu – France environment. Pavel Belichenko – USA Pierre Castelnau – France On sharing a space before the Congress on Rett Syndrome is devoted to issues on Rare Diseases “Hope to the expectations of Vlatka Bosnjak – Croatia Elisabeth Celestin – France patients and families organized by the Alliance rare diseases. This event inaugurates a series of scientific events on this subject Catherine Chiron – France Katherine Dessain Gelinet – France in France during the French Presidency of Europe. Giovanni Cioni – Italy Martine Gaudy – France Rett Syndrome, traditionally classified on the border with autism should share a space for a one-day event organized by URAPEI Uta Francke – USA Dany Gerlach – France Ile de France on Autism and developmental disorders. Simone Gilgenkrantz – France Pascaline Guerin – France The specific Rett Syndrome program directed by Dr. Helen Leonard is of scientific quality with the challenge Daniel Glaze – USA Etienne Joly – France successfully met in Paris, gathering all the world’s leading experts of MECP 2 and the disease. In addition to the Pierre Gressens – France Philippe Kostka – France plenary sessions made by prestigious speakers, more than 130 communications have been submitted to the Congress. Folker Hanefeld – Germany Jean-Christophe Roux – France “A hand link, from gene to care” as the Congress title suggests, professionals, carers and Family Associations have proposed a Michael Johnston – USA program for good practice with workshops rich in educational methods, paramedical approaches and Art therapy. Philippe Jonveaux – France The plasticity of the brain reminds us that there is always “something more” when science is so close to human being. Peter Julu – UK CONGRESS SECRETARIAT David Katz – USA As the Congress President, I have to congratulate AFSR (the French Association of Rett Syndrome) in Alison Kerr - Scotland, UK brotherhood with the European Federation of Associations (RSE, Rett Syndrome Europe) and the American Registration and exhibition: Charlotte Kilstrup-Nielson – Italy Foundation (IRSF, International Rett Syndrome Foundation) to be an actor, international players in this event Franco Laccone – Austria through the Rosetta Stone to understand and be understood while achieving this great union chain forever. Agnès Linglart – France Alina Midro – Poland Warm Greetings to all these children in the growing and make us grow! AIM FRANCE – AIM Group Sakkubai Naidu – USA Leila Zribi Yoshiko Nomura – Japan Welcome to Paris, the City of Light World Rett Syndrome Congress Robert Ouvrier – Australia 29-31, rue de l’Espérance – 75013 Paris – France Christian Richelme – France Phone: +33(0)1 40 78 38 00 – Fax: +33 (0)1 40 78 38 10 Amitiès Eric Smeets – Netherlands E-mail: [email protected] Philippe Evrard Marc Tardieu – France www.worldrettsyndrome2008.org Shelly Weiss – Canada Dear Friends, Chers Amis Nearly a year and a half ago, some Friends from AFSR (Association Française du Syndrome de Rett) in touch with our Friends from RSE (Rett Syndrome Europe) and IRSF (International Rett Syndrome Foundation) Welcome to the th World Rett Syndrome Congress, Paris 008 and us were seated round a cup of coffee in a Paris café and the unique
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