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”. 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|
|Kym Boycott (Chair)||Clinical Geneticist and Associate Professor, Paediatrics, Children's Hospital Eastern Ontario, Canada|
|Gareth Baynam (Vice Chair)||Consultant Clinical Geneticist Genetic Services of Western Australia (GSWA), Clinical Associate Professor The University of Western Australia and Clinical Associate Professor Murdoch University, Australia|
|David Adams||Deputy Director of Clinical Genomics, Office of the Clinical Director/ NHGRI,
MGB/NHGRI, UDP/NIH, Maryland, USA
|Fowzan Sami Alkuraya||Professor, Principal Clinical Scientis/Senior Consultant, Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Kingdom of Saudi Arabia|
|Sarah Bowdin||Consultant Clinical Geneticist, Addenbrooke's Hospital, Cambridge, UK|
|Anthony Brookes||Professor in Bioinformatics and Genomics, Leicester University, UK|
|Xavier Estivill||Senior Investigator and Chair of the Genetics Program, Sidra Medical and Research Center, Qatar|
|Mengchun Gong||Executive Director, National Rare Disease Registry System of China|
|Kenjiro Kosaki||Professor of Medical Genetics and Director, Center for Medical Genetics Keio University School of Medicine, Tokyo, Japan|
|Gert Matthijs||Professor, Head of the Laboratory for Molecular Diagnostics, University Hospital Leuven, Belgium|
|Ann Nordgren||Adjunct Professor of Clinical Genetics, Karolinska Institute, Sweden|
|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|
|Jürgen Reichardt||Vicechancellor, Research and Innovation Department, Yachay Tech University, Ecuador|
|Francois Van Der Westhuizen||Professor of Biochemistry, North-West University, Potchefstroom, South Africa|
|Feng Zhang||Co-founder & Chief Operating Officer of SeekIn, Inc., USA|
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