INTERNATIONAL RETT SYNDROME CONFERENCE RTT 50.1

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,
Page
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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