Presentations ERICA ERN Research Conference
The ERICA ERN Research Conference took place place from December 11th to December 13th, 2024 in Udine, Italy. Below you can download the related hand-outs.
Presentations: Wednesday, December 11th 2024
Setting the Scene for ERN, RD Research across
| # | Title and speaker(s) | Download |
|---|---|---|
| 1 |
Conference Opening & Welcome
By host Maurizio Scarpa, MetabERN and Alberto Pereira, ERICA/Endo-ERN Opening words by David Turello, Chief Medical Director of ASUFC
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Download (, 1 MB) |
| 2 |
ERN Research: The Expected ERICA Legacy
By Hélène Le Borgne, European Commission
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Download (, 2 MB) |
| 3 |
ERICA: Key Achievements (WP1 – WP6)
Moderated by Alberto Pereira (ERICA Coordinator)
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Download (, 2 MB) |
| 4 |
WP2 ‘Data Collection, Integration and Sharing’
By Franz Schäfer, Eduardo Lopez Granados & Jose Ramírez-García
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Download (, 2 MB) |
| 5 |
WP3 ‘Patient Centered Research’
By Ana Rath, Céline Desvignes-Gleizes, Mariangela Pellegrini, Gavin McDonough
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Download (, 2 MB) |
| 6 |
WP4 ‘Clinical Trial Support’
By Ralf-Dieter Hilgers, Luca Sangiorgi
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Download (, 2 MB) |
| 7 |
WP5 ‘Translation and Innovation’
By Ruth Ladenstein and Anton Ussi
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Download (, 2 MB) |
| 8 |
WP6 ‘Integration, Outreach & Dissemination’
By Ana Rath, Alberto Pereira and Maurizio Scarpa
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Download (, 1 MB) |
3 min Poster Pitches, see here for details (, 828 KB)
Presentations: Thursday, December 12th 2024
ERN Research
| # | Title and speaker(s) | Download |
|---|---|---|
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Session 1: Diagnostic Research
(Data Readiness, Genome re-analysis research pipeline, Genomic innovation to shorten time to diagnosis)
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| 10 |
The impact of SOLVERD to research & future of RD Diagnostics
Moderated by Holm Graessner, PI SolveRD/ERN-RND
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Download (, 3 MB) |
| 11 |
Solving the unsolved rare disease cases by working together in a shared analysis infrastructure with flexible variant calling and interpretation to accommodate for specific research questions
By Lennart Johansson, MOLGENIS, UMCG
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Download (, 3 MB) |
| 12 |
The genetic landscape of dilated cardiomyopathy in Hungary
By Beáta Csányi ERN GUARD-Heart
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Download (, 2 MB) |
| 13 |
ERN ReCONNET Red Flags for primary care:
An approach to promote early diagnosis in rare and complex conditions
By Rosaria Talarico ReCONNET
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Download (, 2 MB) |
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Session 2: Outcome Research
(Real World Data, Clinical Outcome Assessment )
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| 14 |
Using primary healthcare data for clinical research: Directions and Barriers
By Franz Schäfer, ERKNet
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Download (, 2 MB) |
| 15 |
Achieving continuous quality improvement in a european rare disease network (Insert ERN): A conceptual framework
By Olivia Spivack ERNICA
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Download (, 775 KB) |
| 16 |
Accelerating and Reducing the Cost of Literature Reviews and Regulatory Dossiers for Rare Diseases with AI
By Meelis Lootus, Tehistark, UK
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Download (, 2 MB) |
| 17 |
European registries for rare endocrine and bone conditions: Electronic tools for mapping and studying rare diseases
By Tess de Rooij, Endo-ERN
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Download (, 2 MB) |
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Session 3: Innovative Therapies
(Advanced Therapeutic Medicinal Products , N-of-few approach)
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| 18 |
A roadmap to tailored genetic interventions in patients with neurodegenerative disorders
By Willeke van Roon-Mom, LUMC
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Download (, 2 MB) |
| 19 |
Obinutuzumab in rituximab-intolerant Anca-associated vasculitis patients
By Jolijn van Leeuwen ERKNet and ERN-RITA
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Download (, 718 KB) |
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Session 4: Clinical Trials
(Drug Trials, inc. nr of few clinical trials; Non-Pharmacological interventions)
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| 20 |
Plenary: Clinical Trials Methodological considerations
Moderated by Ralf-Dieter Hilgers, RealiseD
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Download (, 323 KB) |
| 21 |
Overcoming challenges in epilepsy clinical trials: The role of european consortium for epilepsy trials (ECET)
By Sébile Tchaicha, ERN-EpiCARE
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Download (, 2 MB) |
| 22 |
The Impact of Allocation Bias in Rare Disease Clinical Trials with Multiple Endpoints
By Stefanie Schoenen, RWTH Aachen
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Download (, 789 KB) |
| 23 |
Thyroid hormone analogue (TRIAC) therapy for resistance to thyroid hormone in children: Proposal for an international multi-center clinical trial
By Edward Visser, Endo-ERN
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Download (, 5 MB) |
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Clinical Trials & Supporting Networks
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| 25 |
PLUTO Program- research in forgotten disorders
By Diego Ardigo, Chiesi, IRDiRC
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Download (, 2 MB) |
| 26 |
EMA ACT-EU (Accelerate Clinical Trials in EU)
By Kristina Larsson, EMA
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Download (, 3 MB) |
| 27 |
Connect4Children (c4c), Success stories from PPPs
By Ricardo Fernandes, c4c
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Download (, 2 MB) |
| 28 |
RealiseD, other IHI Projects
By Ralf-Dieter Hilgers & Solange Rohou, EFPIA
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Download (, 2 MB) |
| 30 |
Oxford Debate – Does AI work for RD?
Moderated by Anton Ussi, EATRIS
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Download (, 5 MB) |
| 31 |
Innovation Workshop
Chaired by Ruth Ladenstein, ERN-PaedCan with Gilles Vassal & invited Panelists
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Download (, 2 MB) |
Presentations: Friday, December 13th 2024
Future of the ERN Research
| # | Title and speaker(s) | Download |
|---|---|---|
| 32 |
Jardin & ERN Research
By Luca Sangiorgi, ERN-Bond/Jardin
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Download (, 1 MB) |
| 33 |
Building together the ERN Research Roadmap & Continuation of ERN Research cooperation
Current status of ERN Research and GAP-Analysis (ERN involvement in JTCs). How to respond to all the research needs of the ERNs. Need of ERN Research Conference By Franz Schäfer & Alberto Pereira
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Download (, 765 KB) |
| 34 |
Research funding opportunities & ERNs within ERDERA
By Daria Julkowska
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Download (, 2 MB) |
| 35 |
The role of the National Mirror Groups – NMGs
By Sonja van Weely
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Download (, 1 MB) |
| 36 |
Together4RD Industry & ERN Cooperation
By Sheela Upadhyaya
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Download (, 2 MB) |
| 37 |
ERN Research strategy alignment, ERN Alignment ERDERA WP25.4
Panel discussion on corporate identity of ERN Research With ERDERA Moderated by Maurizio Scarpa and Alexis Arzimanoglou with all ERICA WP-leads
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Download (, 609 KB) |