Interdisciplinary Scientific Committee (ISC)

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:

  1. Developing recommendations on guiding principles for national/trans-national policies for clinical research networks within an international context to enable collaboration and interoperability
  2. Facilitating the conduct of natural history studies relating to rare diseases

 NameTitle and Organization
Gareth Baynam (Chair)Medical Director at Rare Care Centre, Perth Children’s Hospital, Australia
Marc Dooms (Vice-Chair)Center for Clinical Pharmacology, University Hospitals Leuven, Belgium
Claudio CartaResearcher, National Centre for Rare Diseases, Istituto Superiore di Sanità, Italy
Elizabeth McNeilFreelance Consultant, USA
Esther Van Enckevort Technical Project Lead at the University Medical Center Groningen, The Netherlands
Eva Bermejo-SánchezDirector and Tenured Scientist, Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Ministry of Science and Innovation, Spain
Helen MalherbeDirector of Research and Epidemiology at Rare Diseases South Africa NPC, South Africa
Kate BakerMRC Cognition and Brain Sciences Unit, University of Cambridge, UK
Kazuko WadaM.D., Director, Department of Neonatal Medicine, Osaka Women's and Children's Hospital, Japan
Lindsey MurrayExecutive Director at Critical Path Institute (C-Path), USA
Mahsa ShabaniAssistant Professor in Health Privacy Law, Faculty of Law and Criminology, Ghent University, Belgium
María del Mar Mañú PereiraHead of the Rare Anemia Disorders Research Laboratory, Vall d'Hebron Institut de Recerca & Hospital Universitari Vall d’Hebrón, Spain
Matthew MightDirector, Hugh Kaul Precision Medicine Institute, USA
Takeya AdachiResearch Assistant Professor at the Kyoto Prefectural University of Medicine, Japan
Vassili SoumelisChief Medical Officer at Owkin, France

Related link :