IRDiRC Diagnostic Scientific Committee (DSC) unites clinicians and specialists in genetics, genomics, bioinformatics, molecular diagnostics, and biochemistry to help reduce the diagnostic odyssey for the patients living with rare diseases. DSC plays a key role in identifying the barriers related to gene discovery and diagnosis and actively works to overcome these challenges by developing strategies to […]
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IRDiRC’s Diagnostic Scientific Committee (DSC) plays a critical role in identifying and addressing current and future bottlenecks to rare disease gene discovery and diagnosis. As we work towards improving rare disease diagnosis globally, the DSC is currently seeking to expand its membership by welcoming a rare disease diagnostic expert from Africa or Latin America and a […]
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IRDiRC has four Scientific Committees, one each for Diagnostics, Therapies, Interdisciplinary, and Regulatory aspects of rare diseases research. The Diagnostic Scientific Committee (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 […]
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