Working Group on Goal 3


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.  

Members (12)

  • 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