Full Program
RE(ACT) Congress & IRDiRC Conference 2021:
*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”
LUNCH BREAK 12 to 13
Opening Session 13 to 15
Welcome messages
- Irene Norstedt – Acting Director responsible for the Health Directorate within the Directorate-General for Research and Innovation, European Commission
- Olivier Menzel – Chairman and founder BLACKSWAN Foundation, founder RE(ACT) Congress
- Lucia Monaco – Chair, IRDiRC Consortium Assembly
- Daria Julkowska – Coordinator. European Joint Program Rare Disease
- 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
- Anne Pariser, USA
THURSDAY, JANUARY 14th
Session C, 10 to 12, “Diagnostic, WGS, artificial intelligence, new technologies”
- 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”
- Donatello Crocetta, CH “Charting the path to diagnosis for patients with Rare Diseases: the Global Rare Disease Commission”
- Peter Krawitz, USA “Next-Generation Phenotyping Using DeepGestalt in Clinic, Research and Variant Analysis”
LUNCH BREAK 12 to 13
Session D, 13 to 15, “Molecular etiology of RD, innovative clinical trials, precision medicine“
- 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)”
BREAK 15 to 15:30
Session E, 15:30 to 17, “Advanced therapies: gene editing, cell therapy”
- 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”
FRIDAY, JANUARY 15th
Session F, 10 to 12, “Patients as drivers in drug development and clinical trials”
- 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”
LUNCH BREAK 12 to 13
Session G, 13 to 15, “Access to diagnostic and drugs for all”
- 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”
BREAK 15 to 15:30
Session H, 15:30 to 17, “Methodologies to assess the effect of diagnosis and therapies on RD patients“
- 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”
Program updated November 24, 2020
