Therapies Scientific Committee (TSC)

The IRDiRC’s Therapies Scientific Committee (TSC) is a multi-disciplinary, multi-stakeholder group of experts in medical research and drug development specialized in rare diseases, comprising representatives of academia, non-profit organizations, industry, regulators, patient experts, clinicians and research funders across the globe.

The TSC is devoted to pursue the therapeutic development agenda of IRDiRC, supporting the rare disease research community in developing “1000 new rare disease treatments by 2027”. The TSC publishes papers, reports and recommendations in the field, provides expert support to all IRDiRC initiatives, and runs multi-stakeholder Task Forces with internal and external experts to address defined challenges and roadblocks in rare disease drug development.

To pursue the 2027 IRDiRC goal, the key targets of the TSC in the next years will be:

  1. to support the re-definition of the development model for rare disease therapeutics enabling the best integration of the available tools and initiatives specific for rare disease, servicing both profit and non-profit developers, and
  2. to support the re-definition of the international agenda for rare disease research prioritizing areas of unsolved issues constituting roadblocks for the development of new treatment approaches.
 Name Title and Organization
Daniel O'Connor (Chair)Deputy Director, Innovation Accelerator and Regulatory Science, Medicines and Healthcare products Regulatory Agency (MHRA), UK
Anneliene Jonker (Vice-Chair)Program Lead Personalised Medicine, University of Twente, The Netherlands
Annemieke Aartsma-RusLeader of the “DMD exon skip group”, Professor, Department of Human Genetics, Leiden University Medical Center, The Netherlands
Emilio J.A. RoldanScientific Director of Qualix DoT, Argentina
Janet MaynardDirector, Office of Orphan Product Development, Office of the Commissioner, Food and Drug Administration, USA
Ken SakushimaOffice of Advanced Evaluation with Electronic Data
Pharmaceuticals and Medical Devices Agency, Japan
Maria Cavaller BellaubiPatient Engagement Manager, EURORDIS - Rare Diseases Europe, Spain
Marjon PasmooijScience Programme Manager at Medicines Evaluation Board (CBG/MEB), University Medical Center Groningen, The Netherlands
Maurizio ScarpaDirector, Regional Coordinating Center for Rare Diseases, Udine University Hospital and
Coordinator for European Reference Network For Hereditary Metabolic Diseases (MetabERN), Italy
Michelle FarrarProfessor and Paediatric Neurologist at School of Clinical Medicine/Sydney Children's Hospital, Australia
Prajnya RanganathAssociate Professor and Head, Department of Medical Genetics, Nizam's Institute of Medical Sciences, India
Sangeeta JetwhaMedical Director at Anaveon, Switzerland
Thomas MorelResearch Fellow at KU Leuven/Director, Global Patient-Centred Outcomes Research; Policy at UCB Biopharma, Belgium​
Trudy NyakambangweFounder at Child And Youth Care Zimbabwe, Zimbabwe

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