Full Program
RE(ACT) Congress & IRDiRC Conference 2020:
*This program is subject to change without notice at any time*
WEDNESDAY, MARCH 11th
Registration desk opens at 12h00
Session A, 13:30 to 17:30
Workshop 1 (2h): “Methodologies to assess the effect of diagnosis and therapies on RD patients”
- David Pearce, USA – Welcome & explanation of WG3
- John Belmont, USA – Physicians Perspective
- Emily Griese, USA – Population Health in healthcare: What does that mean for rare diseases?
- Alicia Basuskis, AUS – Measures to evaluate appropriate diagnosis on impact of diagnosis
- Patrizio Armeni – IT Evaluating impact of health benefits
- 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”
Workshop 2 (1h30): “The orphan drug development guidebook – Galaxy Guide”
Michela Gabaldo, IT & Anneliene Jonker, NL “An integrated Ecosystem of Research and Development for Orphan Medicinal Products: the IRDIRC Orphan Drug Development Guide”
POSTER SESSION A 17:30 to 18
Public Opening Ceremony 18 to 20
Welcome messages
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”
THURSDAY, MARCH 12th
Session B, 9 to 12:30, “Diagnostic, WGS, artificial intelligence, new technologies” Chairman: John Belmont
- Short Film presented by Maja Bartoszewicz Moritz: Journey of hope
- Mark Caulfield, UK “The 100,000 Genomes Project Transforming Healthcare”
- Tudor Groza, AUS “Patient-driven self-phenotyping for precision health”
- 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 & POSTER SESSION B & C 12:30 to 13:30
Session C, 13:30 to 17:15, “Advanced therapies: gene editing, cell therapy” Chairman: 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”
- Flash-talks from selected abstracts
FRIDAY, MARCH 13th
Session D, 9 to 12, “Molecular etiology of RD, innovative clinical trials, precision medicine” Chairman: 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
LUNCH & POSTER SESSION D, E & F 12 to 13:30
Session E, 13:30 to 17, “Access to diagnostic and drugs for all” Chairman: 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”
- Mengchun Gong, CN “A Guideline on Health Technology Assessment of Orphan Medicinal Products (OMP) in China: Focus on Improving the Accessibility”
SATURDAY, MARCH 14th
Session F, 9 to 12:30, “Patient engagement in drug development and clinical trial”
- 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”
Program updated February 17, 2020
