Full Program

RE(ACT) Congress & IRDiRC Conference 2021

Download the Congress Abstract Book 2021

Congress will be broadcasted through the WHOVA platform. After completing your registration, you will receive a separate email invitation from Whova to register and get access to the congress platform.

You also can directly create an account on Whova, but you HAVE to create your account with the SAME email used to register at the Congress.

ALL BROADCASTED PRESENTATIONS AND LIVE PANEL DISCUSSIONS WILL BE MADE AVAILABLE TO REGISTERED ATTENDEES ON THE EVENING OF EACH DAY OF THE CONGRESS.

This program is subject to change without notice at any time. Times are in CET. All sessions will be followed by 30 minutes of a live panel discussion.

WEDNESDAY, JANUARY 13th

Session A, 9 to 12 (break 10:30 to 11), “Presentation of the Galaxy Guide & Hands-on”

• Virginie Hivert, FR – Eurordis
• Michela Gabaldo, IT – Fondazione Telethon
• Anneliene Jonker, NL – IRDiRC
• Diego Ardigò, IT – Chiesi

LUNCH BREAK 12 to 13

Opening Session 13 to 15

Welcome messages

• Irene Norstedt – Director responsible for the Health Directorate within the Directorate-General for Research and Innovation, European Commission
• Lucia Monaco – Chair, IRDiRC Consortium Assembly
• Daria Julkowska – Coordinator. European Joint Program Rare Disease
• Olivier Menzel – Chairman and founder BLACKSWAN Foundation, founder RE(ACT) Congress
• Keynote presentation: Alexandre Reymond, Director of the Center for Integrative Genomics and president of the executive board of the European Society of Human Genetics, CH “Genome architecture and diseases: the 16p11.2 paradigm”

BREAK 15 to 15:30

Session B, 15:30 to 17, “Rare Diseases Foresight: Panel discussion (EU/America/Asia/AU)”

• Yann Le Cam, FR – Eurordis “Recommendations from the Rare 2030 Foresight Study”
• Anne Pariser, USA – NCATS, NIH
• Matthew Bellgard, AUS “Vision of the Asia-Pacific Economic Cooperation (APEC) Rare Disease Network: Multilateral, Multi-stakeholder Rare Disease Policies & Plans”

THURSDAY, JANUARY 14th

Session C, 10 to 12, “Diagnostic, WGS, artificial intelligence, new technologies” Chair: Jacqui Beckmann

• Short Film presented by Maja Bartoszewicz Moritz: Journey of hope
• Mark Caulfield, UK “The 100,000 Genomes Project Transforming Healthcare”
• Christoffer Nellåker, UK “Deep phenotyping from faces and the Minerva Initiative”
• Uzma Atif, USA “The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease”
• Peter Krawitz, USA “Next-Generation Phenotyping Using DeepGestalt in Clinic, Research and Variant Analysis”
• Clara van Karnebeek, NL “Diagnostic -omics : what’s new in 2021?”

Panel discussion: All speakers and patient representative (Virginie Bros-Facer – Eurordis and Maja Bartoszewicz Moritz)

LUNCH BREAK 12 to 13

Session D, 13 to 15, “Molecular etiology of RD, innovative clinical trials, precision medicine“ Chair: PJ Brooks

• PJ Brooks, USA “Beyond “one disease at a time” so no disease is left behind: “Platform approaches to clinical trials in rare diseases”
• Anna Wedell, SE “Precision Diagnostics of Rare Diseases at the Genomic Medicine Center Karolinska”
• Terence Beghyn, FR “Individualized research program, sustainable approach through drug repurposing”
• Gisou van der Goot, CH “Hyaline Fibromatosis Syndrome: how the study of individual patient mutations drives the molecular understanding of the disease”
• Susan J Ward, USA “Learning from natural history patient data to drive smaller, faster, trials – a case study in Duchenne Muscular Dystrophy (DMD)”

Panel discussion: All speakers and patient representative (Christian Rubio – Global Gene)

BREAK 15 to 15:30

Session E, 15:30 to 17, “Advanced therapies: gene editing, cell therapy” Chair: Joseph Scheeren

• Joseph Scheeren, USA Challenges and considerations in the regulation of gene and cell therapies”
• Alessandro Aiuti, IT “Hematopoietic stem cell gene therapy for monogenic diseases: from experimental studies to approved drugs”
• Hans-Dieter Volk, DE “Immunological challenges in gene and cell therapy”
• Nathalie Cartier-Lacave, FR “Gene therapy for Huntington’s disease and spinocerebellar ataxias: from preclinical proofs of concept to first Phase 1 clinical trial”

Panel discussion: All speakers and patient representative (Oxana Illiach – CORD)

FRIDAY, JANUARY 15th

Session F, 10 to 12, “Patients as drivers in drug development and clinical trials” Chairs: Durhane Wong-Rieger and Samantha Parker

• François Houÿez, FR “Engaging Patients: The EuroCAB Programme”
• Dimitrios Athanasiou, GR ” 25 years of Duchenne Patient Advocacy: Between Hype and Hope”
• Nick Sireau, UK “How patients can lead drug development: the case of the AKU Society”
• Nicola Bedlington, BE “Towards a sustainable patient engagement ecosystem”

Panel discussion: All speakers and patient representative (Sharon Terry – Genetic Alliance)

LUNCH BREAK 12 to 13

Session G, 13 to 15, “Access to diagnostic and drugs for all” Chair: William Gahl

• Susanne Weissbaecker, SG “Taking action for Rare Diseases. If we don’t, who will?”
• Benjamin Djoudalbaye, ET “Access to diagnostic and drugs for all in the African context”
• Durhane Wong-Rieger, CAN “Access to Rare Disease Drugs in Emerging Health Systems: Pathway for Access to Diagnosis, Treatment, Care and Patient Empowerment”
• William Gahl, USA “Global Access to Rare Disease Diagnostics and Treatment”

Panel discussion: All speakers and patient representatives (Alba Ancochea-Diaz – ALIBER; Ramaiah Muthyala – I-ORD; Samuel Agyei Wiafe – Rare Diseases Ghana; Tanja Collin-Histed – International Gaucher Alliance; Eda Selebatso – BORDIS Botswana)

BREAK 15 to 15:30

Session H, 15:30 to 17, “Methodologies to assess the effect of diagnosis and therapies on RD patients“ Chair: David Pearce

• David Pearce, USA – Welcome & Introduction
• Daniel Ollendorf, USA “The Economics of Rare Disease: Value Assessment Challenges, Evidence Considerations, and Special-Case Status”
• Vicki Seyfert-Margolis, USA “Patient-centric digital technology to define disease progression and response to therapy: a model that also supports a de-centralized approach for clinical trials in rare diseases”

Panel discussion: All speakers and patient representatives (Dimitrios Athanasiou – World Duchenne Organization; Vanessa Boulanger – NORD)

Program updated January 12, 2021