The IRDiRC Interdisciplinary Scientific Committee (ISC) works on cross-cutting aspects of rare disease research, including data sharing, ontologies, natural history, biobanking and registries. The ISC works closely with the Diagnostics and Therapies Scientific Committees to develop bridging aspects and standards, and plays a key role in promoting the IRDiRC Recognized Resources.
The ISC has been instrumental in developing and supervising the Task Force aimed at enabling automatable consent-based data discovery and access. The ISC also developed a guiding policy in the generation of privacy-preserving identifiers for research participants across multiple projects, and model consent clauses for rare disease research.
In advancing towards the 2027 IRDiRC goals, the key actions of the ISC in the short term are:
- Developing recommendations on guiding principles for national/trans-national policies for clinical research networks within an international context to enable collaboration and interoperability
- Facilitating the conduct of natural history studies relating to rare diseases
| Name | Title and Organization | |
|---|---|---|
 | Gareth Baynam (Chair) | Medical Director at Rare Care Centre, Perth Children’s Hospital, Australia |
 | Helen Malherbe (Vice Chair) | Associate Professor, Centre for Human Metabolomics, North-West University, South Africa |
 | Chiu-Hui Mary Wang | Director Patient Engagement, Genespire S.r.l., Italy |
 | Chun-Hung Chan | Director at Sanford Biobank, USA |
 | Claudia Gonzaga-Jauregui | Assistant Professor at Universidad Nacional Autónoma de México, Mexico |
 | Claudio Carta | Researcher, National Centre for Rare Diseases, Istituto Superiore di Sanità, Italy |
 | Delia Sanchez | Member of Research Ethics Committees of the School of Medicine, University of Republic, and of National Institute of Donation, Transplant of Cells, Organ and Tissues, Uruguay |
 | Elmira Safarova | Founder and CEO Rarus Health SPA, Chile |
 | Lindsey Murray | Executive Director at Critical Path Institute (C-Path), USA |
 | Persefoni Kritikou | Founder & Health Economist, Rare Disease Consulting, Greece |
 | Ritu Jain | Founder DEBRA International, Singapore |
 | Robert Allaway | Principal Scientist, Sage Bionetworks, USA |
 | Tudor Groza | Principal Scientist, Bioinformatics Institute, A*STAR, Singapore & KK Women's and Children's Hospital, Singapore |
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