A session presenting IRDiRC, its organization, its objectives and more was held during the BIO International Convention in Chicago, IL, USA, 22-25 April 2013.
This session was part of a general session called Orphan Disease Forum and included three speakers:
- Luc Dochez, Chief Business Officer, Prosensa, the Netherlands
- Pamela Gavin, Senior Vice President, the National Organization for Rare Disorders, USA
- Lu Wang, Program Director at the National Institutes of Health, USA
The session was chaired by Ruxandra Draghia-Akli, Director of the Health Directorate of the European Commission’s Directorate-General for Research and Innovation.
In her introduction, Ruxandra Draghia-Akli briefly reminded the audience about the purpose of the session. Many of the world’s rare diseases are chronic, progressive, and often life-threatening, but few can be treated effectively, or even diagnosed reliably and early enough for best therapeutic outcomes. The International Rare Diseases Research Consortium (IRDiRC), launched in 2011 by the European Commission and the U.S. National Institutes of Health, unites public and private funders and coordinates research efforts toward an ambitious goal: develop 200 new therapies and means to diagnose most rare diseases by 2020.
Luc Dochez talked about the challenges of diagnosing a rare disease. Among its recent results, Prosensa has identified six compounds for Duchenne Muscular Dystrophy. Rare diseases may take a long time to be diagnosed. For Fabry disease, for instance, it took 16 years. Patients have a key role in research and drug development for rare diseases. At the beginning of its life, Prosensa, a small company of 85 people, could survive thanks to the support of patients.
Pamela Gavin presented the crucial role that patients have and the contribution to IRDiRC. Founded in 1983, NORD has responsibility within the Orphan Disease Act. Today 455 member organisations belong to NORD.
Lu Wang said that a genetic basis is known for only half of all rare diseases. Dr Wang mentioned the Centers for Mendelian Genomics, whose vision is to discover new genes that cause Mendelian conditions. Dr Wang was present at the launch of IRDiRC and stated that joining IRDiRC is an excellent opportunity to share resources and expertise, coordinate, standardise and harmonise.