Diagnostics Scientific Committee IRDiRC Goal: Means to diagnose most rare diseases by 2020

Diagnostics Scientific Committee Working Groups Genome/Phenome Ontologies and RD Prioritization Sequencing Models at least one SC member plus KB and Secretariat on each call

RD Prioritization Diagnostics RDs that are most tractable in the short-term for gene discovery Build collaborative platform and datasets to facilitate solving more difficult RD

Interpretation of genetic variation in RD Genotypes and Phenotypes Genome-Phenome Interpretation of genetic variation in RD Genotypes and Phenotypes Genome-Phenome Ontologies Sequencing Data-sharing

Genome-Phenome Interpretation of genetic variation in RD RD-SYMPATHI RARE DISEASE SYSTEM FOR PATHOGENICITY INFERENCE Workshop held in Dublin April 2013 Organized by IRDiRC 50 invited participants

Genome-Phenome Common ontology Sequencing standards Freeing of the data for discovery Platform – integration layer Interoperability across the databases Care4Rare Canada – NIH Undx RD Program DECIPHER LOVD RD-Connect BGI Centers for Mendelian Genomics

Genome-Phenome IRDiRC goals overlaps significantly with Global Alliance IRDiRC must be the voice of RD in Global Alliance Draft proposal IRDiRC Action: Adopt

Ontologies Ontologies IRDiRC Action List of disease /phenotype / biobank ontologies Minimal set of phenotype terminoloy that are mapped across ontologies 2000 terms – Boston October 2013 IRDiRC Action Adopt 2000 terms or something beyond Infrastructure to support improvements

Sequencing NGS Guidelines IRDiRC Action Review existing guidelines (6-7 exist now) Participate in Eurogentest meeting Nov 2013 Compare and resolve guidelines Timeline early 2014 IRDiRC Action Adopt

Sequencing Clinical NGS IRDiRC Action Push to have covered by healthcare systems Review countries where this has been successful NIH/NHGRI Clinical exome meeting Jan 2014 Facilitate clinical lab data-sharing IRDiRC Action Need presence at NIH/NHGRI meeting

Identify and evaluate potential therapies Models Models Disease Mechanism Identify and evaluate potential therapies Therapy

Models Facilitate collaboration Market-place for model systems scientists to be connected to novel genes Prioritize RD by therapeutic tractability IRDiRC RD workshops at meetings Identify RD for therapeutic development Landscape of which diseases are not covered by therapeutic research