10 -12 DECEMBER 2020

Thursday December 10th

Patient Council Meeting

Anne Hugon : Welcome, e-Pag ITHACA’s Internal meeting

Dorica Dan, Ammi Sundqvist-Andersson : Agenda and e-Pag Internal Business

Anne Laure Aslanian : Eurordis activities connected to Ithaca

Dorica Dan : Discussion about the futur work priorities

(Clinicians are invited from 15h to 17h)

Ammi Sundqvist-Andersson : Assessment Framework ePAGs

Brainstorm and needs gathering from all ePAGs and clinician

Katarzyna Świeczkowska, Tomaz Grybek : Transition on quality of life

Dorica Dan : Introduction on quality of life

Chris Underhill (Guest) : the importance of Gardening for disabled people

All attendees : Open discussion

Anne Laure Aslanian, Anne Hugon : Conclusion

Friday December 11th

WGs / Afternoon Plenary session
(WGs morning sessions are reported in another section below) 

Alain Verloes : Welcome speech

Alain Verloes : ITHACA Y4 &5 Challenges

Klea Vyshka : Y3 monitoring report

Virginie Bros-Facer : EURORDIS: Patient Partnerships/ Short guide on patient partnerships in rare diseases research projects

Dorica Dan, Ammi Sundqvist-Andersson : Report from the 10th /conclusion on ePAG Assessment Framework

By Raoul Hennekam

By Tjitske Kleefstra

By Andrea Manunta

Laurence Faivre : Briefing / e-learning EJP on diagnosis of rare diseases

Laurence Faivre : Briefing / e-learning EJP on diagnosis of rare diseases

By Marco Tartaglia

By Alessandra Renieri

Alain Verloes

Presentation & Discussion

Discussion with all attendees

Saturday December 12th

Plenary session

Alain Verloes : Welcome speech

Alain Verloes : Presentation of the APOGeE Project


Holm Graessner : Organisation & Procts

Pablo Lapunzina (MADRID LA PAZ U.H)

By Morris Swertz

by Andreas Dufke

by Daria Julkowska 

Marta Del ALAMO : Project Manager ECRIN  : European Clinical Research Infrastructure Network

Florence BIETRIX (Head of operations) : EATRIS presentation – European Advanced Translational Research Infrastructure

by Katarzyna Urbanczyk (EC) / Alain  Verloes

WGs Satellite meetings Program

Friday December 10th Morning

WG 9 : Intellectual Disability

Chairs : T. Kleefstra / D. Wieczorek

Speaker : Tjitske Kleefstra

Speaker : Esther Bakker-vanGijssel

Speaker : Sylvia Huisman

Speaker : Christiane Zweier

Speaker : Tjitske Kleefstra

Discussion between all attendees

WG 6 : Registries

Chairs : A.Renieri / M. Swertz

Speaker : Morris Swertz

Speaker : Morris Swertz / Fernanda De Andrade

Speaker : Jean Louis Mandel

Speaker : Tiziana Franchin

Speaker : Caterina Lo Rizzo

Speakers : Gerritjan Koekkoek / Rob Heethaar

WG 7 : Research

Chair : M. Tartaglia

EJPRD & ERN fellowship Call
– Organization of candidate selection Clinical
– Bursaries : Sponsoring of workshops or clinical Research with Ithaca.
– Use calls and involve trainees

Speaker : Marco Tartaglia, Francesca Clementina Radio

-Syntelencephaly cohort

-Pai/OAFNS syndrome

-IQSEC2 related phenotype


-DLG4 (not in ITHACA list)

-POGZ mutations (new)

Speaker :

Alinoe Lavillaureix

Laurence Faivre

Caterina Lo Rizzo

Zeynep Tümer

Francesca Clementina Radio

Speaker : Gemma Milman

Speaker : Marco Tartaglia, Francesca Clementina Radio

Discussion between all attendees

WG 4 : Clinical guidelines and expert consensus statements

Chair : R.Hennekam

Speaker : Agnies van Eeghen

Speaker :

Speaker : Raoul Hennekam

Speaker : Sue Routledge

WG 8 : Teaching & Training

Chair : Laurence Faivre, Jill Clayton Smith

Speaker :

Speaker :

Speaker :

Speaker :

WG 10 : Spina Bifina

Chairs : Andrea Manunta, Giovanni Mosiello

  • Structure of the group : An Inter – ERN WG
  • Patient perspective on the assessment framework

Speaker :

Sylvia Roozen,

Andrea Manunta,

Ammi  Sundqvist-Andersson

Speakers : Giovanni Mosiello , Andrea Manunta

Speaker :Ferdinand Dhombres

Speakers : Andrea Manunta, Benoit Peyronnet

Speaker : Giovanni Mosiello , K. Abrahamsson

Speaker : Dan Wood

Speakers : Andrea Manunta, Benoit Peyronnet

Speaker : All attendees

Speaker : Giovanni Mosiello

Speaker : Andrea Manunta

All attendees