Matchmaking for Rare Disease Diagnosis

Dr. Sobreira is an Associate Professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins School of Medicine with primary interest in identifying genes that cause rare Mendelian phenotypes and analysis of sequencing data. She has worked extensively on novel strategies for data sharing that facilitate novel disease gene discovery. Dr. Sobreira participated in the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange and the Variant-Level Matching Network, all intended to share next-generation sequencing data.

Matthew Osmond is a certified genetic counsellor at the CHEO Research Institute, and has worked as a project manager for Care4Rare Canada since 2018. He first graduated from Carleton University with a Bachelor of Science Biology, later graduated from McGill University in 2016 with a Master of Science in Human Genetics, and most recently completed a Masters in Genetic Counselling at the University of Toronto. His current research interests include analyzing multi-omic data for unsolved patients, piloting new forms of genomic matchmaking, and developing infrastructure for harmonizing rare disease patient cohorts.

Dr. Orion Buske is the Chief Executive Officer of PhenoTips, where he has been instrumental to the development of the innovative Genomic Health Record software for nearly a decade. Dr. Buske holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking, leading the technical working group of the Matchmaker Exchange as well as the redevelopment of RareConnect.org. Throughout his career he has also led the technical developments of both PhenomeCentral and PatientKind.

In this panel discussion, the strategists, developers, and researchers behind patient matchmaking initiatives will address:

• Patient matchmaking as a driver of diagnosis
• The technology, interoperability, and structured data powering matchmaking platforms
• The future of matchmaking and international collaboration