Primary Care


Individuals living with rare diseases typically present first, and often recurrently, to their primary care providers (PCPs). PCPs are therefore central to all aspects of patients’ experiences during their rare diseases journey, be it in shortening the diagnostic odyssey, data sharing, access to approved and investigational therapies, care coordination, and social outcomes. This taskforce is critical to all IRDiRC goals and traverses all “IRDiRCians”. To realize IRDiRC Goals, especially Goal 1, community-level providers must be engaged.


This Task Force aims to (1) bring together representatives from the stakeholders required to identify the priority research areas in primary care that need to be addressed to deliver against the IRDiRC goals, (2) identify current state of play, and (3) identify challenges and opportunities in rare diseases research in primary care. This may include the following area: diagnosis, therapies, ELSI, and patient engagement.

Plans and Timeline

  • Assemble Task Force team of members and Co-Chairs from recommendations of IRDiRC members and scientific and constituent committees (Q4 2021)
  • Hold first virtual meeting (Q4 2021)
  • Develop a scope of the challenge and state-of-play document (Q1 2022)
  • Develop an asset map with the identification of the international research teams working on this challenge (Q1/Q2 2022)
  • Identify a targeted workshop that address an area(s) of priority (Q2 2022)
  • Develop objectives and outcomes for a workshop focused on a specific challenge(s) to be held in (Q2 2022)
  • Hold workshop (Q3 2022)
  • Disseminate workshop outcomes (Q4 2022)

Members (20)

  • Agyei Wiafe, Samuel – Rare Disease Ghana Initiative, Ghana
  • Baynam, Gareth (Co-Chair) – Western Australian Department of Health, Australia
  • Bjornson-Pennell, Heidi – Chan Zuckerberg Initiative, USA
  • Bolz-Johnson, Matt – Rare Disease International, Germany
  • Carrion, Prescilla – University of British Columbia, USA
  • Chen Grady, Alice – National Center for Advancing Translational Sciences at NIH, USA
  • Dong, Xinran – Children’s Hospital of Fudan University, China 
  • Dooms, Marc – University Hospitals Leuven, Belgium
  • Dreyer, Lauren – Western Australian Department of Health, Australia
  • Garcia Ribes, Miguel – Spain ERN/semFYC, Spain
  • Graessner, Holm – University Hospital Tübingen, Germany
  • Granados, Alicia – Sanofi-Genzyme, Spain
  • Groft, Stephen (Co-Chair) – National Center for Advancing Translational Sciences at NIH, USA
  • Groza, Tudor – European Bioinformatics Institute, UK
  • Hartman, Adam (Vice Chair) – National Institute of Neurological Disorders and Stroke at NIH, USA
  • Houwink, Elisa – Leiden University Medical Center, Netherlands
  • Molster, Caron – Western Australian Department of Health, Australia
  • Shekhar Jamuar, Saumya – KK Women’s and Children’s Hospital, Singapore
  • Tumiene, Biruté – Vilnius University Hospital Santaros Clinics, Lithuania
  • Vasquez Loarte, Tania – G2MC, USA