European Economic
and Social Committee
Side event programme
Programme - 11 April
Address: 63A Żwirki I Wigury Street,
02-091 Warsaw
08:00 | REGISTRATION & WELCOME COFFEE
08:30-09:15 | OPENING REMARKS
- Prof. Krzysztof Szczałuba, Director of the Center of Excellence for Rare and Undiagnosed Diseases, Medical University of Warsaw, Poland
- Prof. Urszula Demkow, Secretary of State, Ministry of Health, Poland
- Ms. Małgorzata Bogusz, member of the European Economic & Social Committee (EESC), Poland
- Mr. Stanislaw Maćkowiak, President of National Forum ORPHAN, Poland
- Dr. Virginie Bros-Facer, CEO of EURORDIS
- Dr. Daria Julkowska, coordinator of ERDERA, INSERM, France
Conference Chair: Ms. Marzena Nelken, National Forum Orphan
09:15-10:45 | SESSION 1 - Advancing Diagnostics for Rare Diseases
Chair: Prof. Holm Graessner
- Newborn screening initiatives & future directions – the Polish example of diagnosis and treatment of Spinal Muscular Atrophy (SMA) , Prof. Anna Kostera-Pruszczyk, Head of the Department and Clinic of Neurology at UCK WUM, University of Warsaw, Poland
- Advancements in NBS - Screen4Care – Prof. Alessandra Ferlini, director of the Medical Genetics section at the University of Ferrara & Screen4Care coordinator, Italy
- Innovation in diagnostics - beyond genetic testing and towards clinical decision support tools – Prof. Holm Graessner, Director of the Rare Disease Centre Tübingen, University of Tübingen, Germany
- From diagnosis to innovative craniofacial surgeries – Prof. Dawid Larysz, Head of the Clinic of Head and Neck Surgery for Children and Adolescents at the Provincial Specialist Children’s Hospital in Olsztyn, Poland
- Challenges and opportunities in diagnostics from the perspective of patients – Mr.Wojciech Nadolski , Association of Families with Fabry Disease Poland
- Q&A
10:45-11:00 | COFFEE BREAK & NETWORKING
11:00-11:50 | SESSION 2 - Innovative Therapies and Clinical Trials – Key projects supported by Medical Research Agency (MRA)
Chair: Prof. Wojeciech Fendler
- MRA’s actions for Rare Diseases- success stories and future prospects, Prof. Wojciech Fendler, President of the Medical Research Agency (MRA), Poland
- Clinical Trials as a key component of effective treatment in children with rare diseases based on MRA's projects experienced, Prof. dr hab. n. med. Anna Raciborska, Head of the Department of Oncology and Oncological Surgery for Children and Adolescents, Institute of Mother and Child, Poland
- MRA grants in orphan diseases in children: lessons from TSC, Prof. dr hab. n. med. Katarzyna Kotulska-Jóźwiak; Head of the Department of Neurology and Epileptology, The Children’s Memorial Health Institute, Poland
- Q&A
11:50-13:15 | NETWORKING & LUNCH BREAK
13:15-15:00 | SESSION 3 - Strengthening National & European Collaboration in translational research
Chair: Prof. Luis Pereira de Almeida
- Opening by Ms. Hélène Le Borgne, Policy Officer, DG RTD, European Commission
- Translational medicine platforms: a way to strengthen national & European ecosystem, Prof. Luis Pereira de Almeida, President of the Centre for Innovative Biomedicine and Biotechnology, University of Coimbra, Portugal
- RareBridges – Translational Research Platform for Rare Diseases, Prof. Małgorzata Dawidowska, Deputy Director for Research at IHG PAS, Poland
- EATRIS – European Infrastructure for Translational Medicine, Mr. Anton Ussi, Operations & Finance Director of EATRIS, The Netherlands
- Łukasiewicz - PORT - Advancing translational research via P4 medicine approaches, Dr. Agnieszka Krzyżosiak, Head of Laboratory of Mechanisms of Neurodegeneration Life Sciences & Biotechnology Center, PORT, Poland
- Patient organisation as driver for translational research, Ms. Małgorzata & Mr. Piotr Kośla, PACS2 Research Foundation, Poland
- Q&A
15:00-16:00 | Discussion Panel: RD research: From national registries to European Health Data Space and back
Chair: Mr. Tomasz Grybek
- How to build FAIR registries, Dr. Bruna Dos Santos Vieira, Data Steward, Center for Molecular and Biomolecuar Informatics, Radboud UMC, The Netherlands
- How to build quality data sets in the clinical environment, Prof. Mar Manu Pereira, Head of research Lab in rare anemia disorders, Scientific Director of ERN-EuroBloodNet, Val d’Hebron Insitute of Research, Spain
- Unlocking the Power of Clinical Data for Rare Disease Research and Patient Care, Mr. Robert Ługowski, Chief Executive Officer, CliniNote, Poland
- Importance of quality data for regulatory decisions, Mr. Tomasz Grybek, Member of the EURORDIS Board of Directors, Poland
- Open forum discussion with audience participation
16:00-16:15 | COFFEE BREAK
16:15-17:45 | Holistic approach to care
Chair: Dr. Daria Julkowska
This session will be dedicated to discussing the links between the national RD plans/strategies and the holistic approach to care. The role of the RD National Mirror Groups and how they can support national communities will also be presented with the objective to initiate the creation of the Polish National Mirror Group.
- State-of-the-art of the organisation of Polish RD community, Prof. Alicja Chybicka, President of the Polish Parliament Group for Rare Diseases, Poland
- RD National Mirror Groups as key element to support national community and strategic integration, Dr. Daria Julkowska, ERDERA coordinator, France
- Example of French National Plan for Rare Diseases – holistic approach to care in National Plan - learning from best practices, Ms. Anne-Sophie Lapointe, Ministry of Health, France
- Social and psychological support for patients with RD – Ms. Vinciane Quoidbach, European Brain Council, Belgium
- Reports on patients needs – two perspectives one goal, Mr. Stanislaw Maćkowiak National Forum Orphan, Poland
- Open forum discussion with audience participation