Diagnostic delay and lack of effective therapies are a major cause of socio-economic burden on rare disease patients and their families. In addition, the management of rare diseases represents a real economic challenge for the health care systems.
The IRDiRC Working Group on Goal 3 was established to identify what are the specific needs, metrics and tools for appropriate data collection and development of methodologies addressing the third goal of IRDiRC: Develop methodologies to assess the impact of diagnosis and therapies on rare disease patients.
- Patrizio Armeni, SDA Bocconi School of Management, Italy
- Dimitrios Athanasiou, Parent Project MDA HELLAS, Greece
- Alicia Bauskis, Western Australia Department of Health, Australia
- John Belmont, Illumina, USA
- Anna Bucsics, Mechanism of Coordinated Access to Orphan Medicinal Products, Austria
- Peter Fish, Mendelian, UK
- Josie Godfrey, JG Zebra Consulting, UK
- Daniel Ollendorf, Tufts University Medical Center, USA
- David Pearce, Sanford Health, USA
- Manual Posada, Rare Diseases Research Institute, Institute of Health Carlos III, Spain
- Michael Schlander, University of Heidelberg, Germany
- Vicki Seyfert-Margolis, MyOwnMed, USA
Working Group formation (Q2-2019)
Workshop: February 2019, Paris, France