Diagnostics Scientific Committee (DSC)

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:

  1. 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
  2. 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
 NameTitle and Organization
Biruté TumieneClinical geneticist at the Centre for Medical Genetics and the Coordinator for Competence Centres in Vilnius University Hospital Santaros Klinikos, Lithuania
Alain VerloesProfessor, Department of Genetic, Hospital Robert Debré (Paris, France) and Coordinator of ERN ITHACA (Intellectual Disability and Congenital Malformations), France
Clara D.M. van KarnebeekPrincipal Investigator, Emma Chilldren's Hospital, Amsterdam, The Netherlands
David AdamsDeputy Director of Clinical Genomics, Office of the Clinical Director/ NHGRI,
MGB/NHGRI, UDP/NIH, Maryland, USA
Francois Van Der WesthuizenProfessor of Biochemistry, North-West University, Potchefstroom, South Africa
Guillem Pintos-MorellProfessor, Vall d'Hebron Research Insititute, Barcelona, Spain
Jürgen ReichardtAustralian Institute of Tropical Health and Medicine (AITHM), James Cook University, Australia
Kenjiro KosakiProfessor of Medical Genetics and Director, Center for Medical Genetics Keio University School of Medicine, Tokyo, Japan
Mengchun GongMedical Informatics Consultant, Fudan University Children's Hospital/ National Center for Children's Care, China
Ratna PuriProfessor 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 ShaiChief Scientist, Pediatric Hemato-Oncology, Brain Cancer Molecular Medicine Laboratory Building, Sheba Medical Center, Israel
Sally Ann LynchConsultant Clinical Geneticist, Children's Health Ireland
Saumya Shekhar JamuarMedical Director, KK Women's and Children's Hospital
Sergi Beltran Agulló Head of Bioinformatics Analysis, Centro Nacional de Análisis Genómico - Centre de Regulació Genòmica (CNAG-CRG), Barcelona, Spain
Victor FaùndesAssistant Professor, Faculty of Medicine, University of Chile
Virginie Bros-FacerAssociate Director, Medical Affairs EMEA, Illumina

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