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 | |
|---|---|---|
 | Gareth Baynam (Chair) | Adjunct Policy Advisor on Clinical Genomics at the WA Department of Health, Australia |
 | Biruté Tumiene (Vice-Chair) | Clinical geneticist at the Centre for Medical Genetics and the Coordinator for Competence Centres in Vilnius University Hospital Santaros Klinikos, Lithuania |
 | Alain Verloes | Professor, Department of Genetic, Hospital Robert Debré, Paris, France, and Coordinator of ERN ITHACA (Intellectual Disability and Congenital Malformations) |
 | Anthony Brookes | Professor in Bioinformatics and Genomics, Leicester University, UK |
 | Clara D.M. van Karnebeek | Principal Investigator, Emma Chilldren's Hospital, Amsterdam NL |
 | David Adams | Deputy Director of Clinical Genomics, Office of the Clinical Director/ NHGRI, MGB/NHGRI, UDP/NIH, Maryland, USA |
 | Francois Van Der Westhuizen | Professor of Biochemistry, North-West University, Potchefstroom, South Africa |
 | Guillem Pintos-Morell | Professor, Vall d'Hebron Research Insititute, Barcelona, Spain |
 | Helen Malherbe | Rare Diseases South Africa, Cape Town, South Africa |
 | Jürgen Reichardt | Australian Institute of Tropical Health and Medicine (AITHM), James Cook university, Australia |
 | Kenjiro Kosaki | Professor of Medical Genetics and Director, Center for Medical Genetics Keio University School of Medicine, Tokyo, Japan |
 | Mengchun Gong | Medical Informatics Consultant, Fudan University Children's Hospital/ National Center for Children's Care, China |
 | Ratna Puri | Professor in Genetics, Ganga Ram Institute of Postgraduate Medical Education and Research (GRIPMER) and Chairperson, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India |
 | Ruty Shai | Chief Scientist, Pediatric Hemato-Oncology, Brain Cancer Molecular Medicine Laboratory Building, Sheba Medical Center, Israel |
 | Sarah Bowdin | Consultant Clinical Geneticist, Addenbrooke's Hospital, Cambridge, UK |
 | Sergi Beltran Agulló | Head of Bioinformatics Analysis, Centro Nacional de Análisis Genómico - Centre de Regulació Genòmica (CNAG-CRG), Barcelona, Spain |
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