Primary Care

Introduction

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

Objectives

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)

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