The IRDiRC Diagnostic Scientific Committee (DSC) is committed to support IRDiRC’s diagnostic Goal 1 for 2027:
“All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline”.
IRDiRC Goal 1
The DSC brings together clinicians and experts in genetics, genomics, bioinformatics, molecular diagnostics and biochemistry to shorten the diagnostic odyssey often experienced by rare disease patients.
Among its roles, the DSC identifies current and future bottlenecks to rare disease gene discovery, addresses challenges and roadblocks in rare disease diagnosis, and collaborates with international partners to develop tools and resources to facilitate genomic data discovery, analyses and sharing.
The key activities of the DSC in the short term to advance the IRDiRC diagnostic goal include:
- Formulating approaches to tackle undiagnosed and unsolved rare diseases, many of which will be secondary to disease mechanisms that are impossible or not easily identified using current technologies
- Facilitating access to clinical genome-wide sequencing and secondary use of this data in a research setting to enable further discovery of disease mechanisms and optimization of diagnostic tools
| Name | Title and Organization | |
|---|---|---|
 | Sally Ann Lynch (Chair) | Consultant Clinical Geneticist, Children's Health Ireland, Ireland |
 | Clara D.M. van Karnebeek (Vice Chair) | Professor of Pediatrics & Biochemical Genetics, Emma Center for Personalized Medicine, Amsterdam UMC, The Netherlands |
 | Alain Verloes | Professor, Department of Genetic, Hospital Robert Debré and Coordinator of ERN ITHACA (Intellectual Disability and Congenital Malformations), France |
 | Biruté Tumiene | Clinical geneticist at the Centre for Medical Genetics and the Coordinator for Competence Centres in Vilnius University Hospital Santaros Klinikos, Lithuania |
 | Charles Steward | Head of Patient and Participant Engagement, Genomics England, UK |
 | Chris Hendriksz | Chief Community Impact Officer, A Rare Cause, UK |
 | Guillem Pintos-Morell | Professor, Vall d'Hebron Research Insititute, Spain |
 | Florencia Braga Menéndez | CO Director, Argentine Patient Alliance (ALAPA), Argentina |
 | Innocent H. Peter Uggh | Research Scientist, Kilimanjaro Clinical Research Institute, Tanzania |
| Joanna Polanska | Professor of Data Science and Engineering, Silesian University of Technology, Poland | |
 | Neerja Gupta | Additional Professor, Division of Genetics, Department of Pediatrics, AIIMS, India |
 | Rasha Kaffas | Assistant Professor of clinical and chemical pathology, Faculty of Medicine, Cairo University, Egypt |
 | Saumya Shekhar Jamuar | Medical Director, KK Women's and Children's Hospital, Singapore |
 | Victor Faùndes | Assistant Professor, Faculty of Medicine, University of Chile, Chile |
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