Table of Contents
The RE(ACT) Congress and IRDiRC Conference will take place in Berlin, Germany, from 11th to 14th March 2020.
The scientific program has been inspired by
IRDiRC principles and by the activities foreseen in 2020
Early Bird Registration has been extended
until FRIDAY Dec 20th!
IRDiRC members have reduced registration fees.
This joint event aims to bring together scientific leaders and experts together with young scientists from a variety of breakthrough scientific fields to present cutting-edge research, exchange ideas, and discuss policies related to rare diseases research. Patients and patient organizations, who are committed to research, will also be in attendance to share their experiences and perspectives.
Public Opening Ceremony
Alexandre Reymond, Director of the Center for Integrative Genomics and president of the executive board of the European Society of Human Genetics: “Genome architecture and diseases: the 16p11.2 paradigm”
Methodologies to assess the effect of diagnosis and therapies on RD patients
- David Pearce, USA – Welcome & explanation of WG3
- John Belmont – Physicians Perspective
- Emily Griese – Population Health in healthcare: What does that mean for rare diseases?
- Alicia Basuskis – Measures to evaluate appropriate diagnosis on impact of diagnosis
- Patrizio Armeni – Evaluating impact of health benefits
- Daniel Ollendorf, USA “The Economics of Rare Disease: Value Assessment Challenges, Evidence Considerations, and Special-Case Status”
The orphan drug development guidebook – Galaxy Guide
- Virgine Hivert, FR
- Diego Ardigò, IT
Diagnostic, WGS, artificial intelligence, new technologies
- Mark Caulfield, UK
- Tudor Groza, AUS “Patient-driven self-phenotyping for precision health”
- Yaron Gurovich, USA “Next-Generation Phenotyping Using DeepGestalt in Clinic, Research and Variant Analysis”
- Anna Wedell, SE “Precision Diagnostics of Rare Diseases at the Genomic Medicine Center Karolinska”
- Christoffer Nellåker, UK
Advanced therapies: gene editing, cell therapy
- Alessandro Aiuti, IT
- Hans-Dieter Volk, DE “Immunological challenges in gene therapy”
- Nathalie Cartier-Lacave, FR
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”
- Terence Beghyn, FR
- Gisou van der Goot, CH
Access to diagnostic and drugs for all
- Susanne Weissbaecker, SG “Taking action for Rare Diseases. If we don’t, who will?”
- Benjamin Djoudalbaye, ET
- Durhane Wong-Rieger, CAN
- William Gahl, USA
- Mengchun Gong, CN “Informatics Innovation in NRDRS: providing Systemic Support to Orphan Drug Development in China”
- Donatello Crocetta, CH
Patient engagement in drug development and clinical trial
- Nicola Bedlington, BE
- François Houÿez, FR “Engaging Patients: The EuroCAB Programme”
- Ritu Jain, SG
- Dimitrios Athanasiou, GR
- Nick Sireau, UK “How patients can lead drug development: the case of the AKU Society”
More details about the program can be found here.