INTERNATIONAL RETT SYNDROME CONFERENCE RTT 50.1 Celebrating the 50th Anniversary of the First Publication on Rett Syndrome by Andreas Rett 15th – 17th September 2016 Vienna, Austria

CONTENTS

WELCOME Dear Friends and Colleagues,

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It is with great pleasure that we welcome you to participate in a unique event marking an important milestone in the history of Rett syndrome research. Just in time for the 50th anniversary of Andreas Rett’s first publication, the International Rett Syndrome Conference, RTT 50.1, is being held from 15th to 17th September 2016 in the historic city of Vienna, home to Andreas Rett and “birthplace” of Rett syndrome.

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Welcome

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Organizing Committee

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Under The Auspices Of

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General Information

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Conference Program

We would like to thank all participating parents and their children, clinicians, researchers, therapists and caretakers, as well as all of the „helping hands“ who have contributed to making this an unforgettable anniversary. RTT 50.1 was developed from an idea and at the personal initiative of the organizing committee but could not have been realized without the (financial) support of a number of National Rett Syndrome Parents’ Associations and other sponsors.

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Sponsorship & Exhibitors

A big THANK YOU to all of you and we wish you a memorable time in Vienna. On behalf of the Organizing Committee, Michael Freilinger & Peter B Marschik

“Live – Love – Learn. These three words summarize best our task for the next three days! To live - to love - and to learn, these are the pillars on which our daily work and our meeting in this conference room are based. It is reassuring to see the RETT-Family reunited here and to know that here common suffering, common love and common learning are brought together in a wonderful way and are being experienced daily as well as in the highlights points of this meeting.“ Andreas Rett, cited at the 5th annual conference of the International Rett Syndrome Association in 1989, Washington, DC

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ORGANIZING COMMITTEE Dr. Michael Freilinger, MD Associate Professor of Pediatrics; Consultant in Child Neurology, Consultant in Child and Adolescent Psychiatry; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria DDr. Peter B Marschik, Mphil Dphil DMsc PhD Associate Professor of Physiology/Neurolinguistics, iDN - interdisciplinary Developmental Neuroscience; Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Austria; Center of Neurodevelopmental Disorders (KIND), Department of Women‘s and Children‘s Health, Karolinska Institutet, Stockholm, Sweden Dr. Christa Einspieler, PhD Professor of Physiology, iDN - interdisciplinary Developmental Neuroscience; Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Austria

UNDER THE AUSPICES OF Prof. Dr. Markus Müller, MD Rector of the Medical University of Vienna, Austria DI Dr. Michaela Fritz Vice Rector for Research and Innovation of the Medical University of Vienna, Austria Prof. Dr. Hellmut Samonigg, MD Rector of the Medical University of Graz, Austria Caroline Schober-Trummler, Msc Vice Rector for Research and International Matters of the Medical University of Graz, Austria Prof. Dr. Susanne Greber-Platzer, MD MBA Head of the Department of Pediatrics and Adolescent Medicine of the Medical University of Vienna, Austria

Dr. Alan K Percy, MD Professor of Pediatrics, Neurology, Neurobiology, Genetics, and Psychiatry, University of Alabama at Birmingham, USA

Dr. Leopold MG Curfs, PhD Professor of Intellectual Disabilities, Maastricht University Medical Centre; Director of the Governor Kremers Centre Rett Expertise Centre Netherlands; Maastricht University Medical Centre, The Netherlands Dr. Walter E Kaufmann, MD PhD Professor of Neurology, Director of the Center for Translational Research, Greenwood Genetic Center; Ravenel Boykin Curry Chair in Genetic Therapeutics; Co-Director of the Rett Syndrome Program, Greenwood, SC, USA

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GENERAL INFORMATION Conference Venue The International Rett Syndrome Conference RTT 50.1 will take place at the Juridicum (Faculty of Law). Address: Schottenbastei 10-16, 1010 Vienna

Registration & Information Desk The registration desk will open at 4 pm on Thursday 15th September 2016. The registration and information desk will remain open throughout the conference, closing at 12 noon on Saturday 17th September. Our staff will be happy to answer your questions.

Juridicum, University of Vienna

All Fees Include - Conference participation on Friday 16th and Saturday 17th September 2016 - Welcome Reception on Thursday 15th September 2016 - Coffee and tea breaks served in the Aula - Lunch on Friday and Saturday served in the Aula Badges Delegates are required to wear conference badges at all times. Badges are required for entry to all sessions and catering facilities.

City Hall (Rathaus)

Welcome Reception Date and time: Thursday 15th September 2016, 7.30 pm Location: City Hall of Vienna, Wappensaal Entrance: 1010 Vienna, Lichtenfelsgasse 2, Feststiege II The Welcome Reception (with drinks and buffet) is sponsored by the City of Vienna, the Mayor and RTT 50.1. Juridicum Ground floor

Juridicum Loft

Transportation at your own convenience. Walk to the City Hall (Meeting at the Registration Desk, Juridicum, at 6.45 pm) Please bring your invitation card (which is in the conference bag)!

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Conference Dinner Date and time: Friday 16th September 2016, 7 pm Location: Loft of the Juridicum Tickets can be bought at the registration desk (€ 75,00 per person). Technical Information for Presenters We ask all presenters to please respect the time limits. All session rooms are equipped with one (Windows-based) computer, a projector and a screen. Speakers are requested to bring their own USB device so that they can easily upload their presentations onto the conference computer. This should be done during the break preceding the session (at the latest) in order to save time between the presentations. Speakers will operate their own presentation. If speakers prefer to use their own MacBook, they will need to bring a suitable VGA connector. We recommend using either PowerPoint or Adobe PDF presentation files saved on a USB device that is compatible with Microsoft Windows 7. The expected format of the presentation file is Microsoft Windows PowerPoint (version 2013 or earlier versions). Mobile Phones As a courtesy to presenters and other participants, please ensure that mobile telephones are switched off or in ‘silent’ mode during all presentations.

Electricity Electricity in Austria is supplied at 220V-50Hz AC. Important Phone Numbers European emergency number – 112 Fire brigade – 122 Police – 133 Ambulance service – 144 Taxis +43 1 40100 +43 1 31300 +43 1 60160 Internet Access Wi-Fi access is free at the conference venue. Useful Apps wien.at live MyTaxi Bikar – Citybikes Wienerlinien.at – Tickets

Taking of photographs is not allowed. Trade Stands Representatives of several companies will be present during the meeting. Please make an effort to visit their stands. Language The official language of the conference is English. Currency The official currency of Austria is Euro. The majority of hotels, restaurants and shops accept credit cards.

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CONFERENCE PROGRAM Thursday 15th September 5 – 7 pm 6.45 pm

7.30 pm

Friday 16th September

JURIDICUM Registration & Information

8 am – 7 pm

„Joint Walk (15 min) to the Welcome Reception at the Vienna City Hall“ Meeting Point: Juridicum, Registration desk

9 – 9.15 am

VIENNA CITY HALL Entrance: 1010 Vienna, Lichtenfelsgasse 2, Feststiege II, Wappensaal Invitation card needed (Conference bag)

9.15 – 10.45 am

JURIDICUM – AULA Registration & Information AUDITORIUM Opening Ceremony Organizing Committee HISTORY Chair: Günther Bernert On the origins and rise of Rett syndrome Germain Weber

Welcome Reception Dr. Michael Häupl, Mayor of Vienna Camerata Medica (Classical Quartette) Buffet

The rise and recognition of Rett syndrome, a personal view Folker A Hanefeld Rett syndrome, pathophysiology; from observation to insight Yoshiko Nomura Synaptic abnormalities in RTT and their impact on brain plasticity Michael V Johnston Questions & Discussion _ __ ___ __ _ 10.45 – 11.15 am

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Break – Coffee – Posters – Trade Exhibition

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Friday 16th September 11.15 am – 12.45 pm

DEFINING & DIAGNOSING RTT Chair: Ingegerd Witt-Engerström

Friday 16th September 2 – 3.15 pm

Progress in Rett syndrome: first steps to natural history study Alan K Percy

Databases today and tomorrow: relevance for clinics and research Helen Leonard

Clinical and genetic diagnostic criteria in Rett syndrome Jeffrey L Neul

Diagnosis age, classification and severity scales in a large cohort of Rett patients Giorgio Pini

Behavioural biomarkers of typical Rett syndrome: moving towards early identification Christa Einspieler & Peter B Marschik

Males with MECP2-related syndromes and their affected mothers: clinical, genetic and family environment interfac Gabriel M Ronen

The challenging Rett syndrome: to watch, to measure and to compare Eric EJ Smeets

Novel insights in biological pathways of Rett syndrome data Friederike Ehrhart

Questions & Discussion _ __ ___ __ _ 12.45 – 2 pm 1.15 – 1.45 pm

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CLINICS Chair: Walter E Kaufmann

Digital transformation of healthcare a chance for rare diseases Thomas Friedlmayer

Lunch – Trade Exhibition _ __ ___ __ _ POSTER WALK • Communication, Chair: Peter B Marschik • Pathophysiology, Chair: Nicoletta Landsberger • Genetics, Chair: Angus Clarke • Clinics, Chair: Michele Zappella

Questions & Discussion _ __ ___ __ _ 3.15 – 3.45 pm

Break – Coffee – Posters – Trade Exhibition

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Friday 16th September 3.45 – 5 pm

FREE COMMUNICATIONS Chair: Franco Laccone

Friday 16th September 5 – 5.45 pm

The characterization of a novel RTT mouse model provides new information on MeCP2 regulation Anna Gandaglia Brain SRB1 modulation as a possible player in Rett syndrome pathogenesis Giuseppe Valacchi RNA sequencing analysis in iPSCs derived Rett neurons to identify shared molecular alterations Ilaria Meloni

1st ANDREAS RETT LECTURE Introduction and Laudation: Alan K Percy Rett syndrome: a winding path from clinic to bench and back to the clinic Huda Y Zoghbi

7 pm

JURIDICUM – LOFT Anniversary dinner Moderation and Celebratory note: Alan K Percy Guest of honour: Barbara Rett Music Buffet

Reduced inhibition and excitation underlies circuitwide changes in vivo in a mouse model of RTT Abhishek Banerjee Lack of Mecp2 interferes with mechanisms of cortical progenitors proliferation and differentiation Clementina Cobolli Gigil Development and characterization of a human Rett syndrome cell model using a non-integrating reprogramming strategy Daniela Ackerbauer Brain phosphorylation of MeCP2 at serine 164 is developmentally regulated and globally alters its chromatin association Gilda Stefanelli

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Saturday 17th September 8 – 12.am

9 – 10.15 am

Saturday 17th September

JURIDICUM – AULA Registration & Information

How do females with Rett syndrome communicate and what factors influence successful communication? Anna Urbanowicz

AUDITORIUM THERAPY Chair: Leopold MG Curfs

Using eye gaze to access an augmentative communication device for persons with RTT Patricia Remshifski

Ten years of the Cardiff Rett syndrome clinic Angus Clarke

Rett syndrome - early signs of literacy enhancement in girls with Rett syndrome Gerna Scholte

Gross motor function and activity in Rett syndrome Jenny Downs

Diagnostics & eye gaze learning curve Alex Schuh

Clinical trials in Rett syndrome: opportunities and challenges Walter E Kaufmann Questions & Discussion _ __ ___ __ _ 10.15 – 10.45 am 10.45 am – 12.10 pm

Break – Coffee – Posters – Trade Exhibition _ __ ___ __ _ COMMUNICATION MATTERS Chair: Gillian Townend Communication in individuals with Rett syndrome: what we know now and what we have yet to find out Gillian Townend Intelligent pre-linguistic vocalisation analysis: a promising novel approach for the earlier identification of Rett syndrome Florian B Pokorny

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Questions & Discussion _ __ ___ __ _ 12.10 – 12.30 pm 12.30 – 1.35 pm

Break – Coffee – Posters – Trade Exhibition _ __ ___ __ _ PARENTS ASSOCIATIONS Chair: Paige Nues Parents and parents associations: history of RTT Kathy Hunter Dr Rett: a legacy of inspiring families Yvonne Milne Swedish National Rett Center Märith Bergström-Isacsson

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Saturday 17th September The need for life-long medical follow-up of individuals with Rett syndrome Anne-Marie Bisgaard Questions & Discussion

2 – 3 pm

LOFT FAREWELL PARTY Meet the Girls – Meet the Parents – Meet the Experts The role of parent organizations: patient-tricity in research, advocacy, and care practices Paige Nues „Looking at the past to build the future“ Parents Representatives END of the CONFERENCE

3.30 – 6 pm

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LOFT General Assembly Rett Syndrome Europe Thomas Bertrand

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SPONSORSHIP & EXHIBITORS

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