Passing the Turing Test in Rare Disease Diagnosis
Passing the Turing Test in Rare Disease Diagnosis


This talk will describe several machine learning and AI-based approaches utilized in rare-diseases. Case studies include a pipeline/graph-based AI engine for rare-disease landscape analysis, machine-learning methods for Q&A-guided rare-disease diagnosis, and an AI-based genomic/phenotype integrated approach to rare-disease diagnosis in a neonatal intensive care unit setting that recently set a GUINNESS book world record for fastest genomic-based diagnosis. This presentation will also reflect upon definitions – what constitutes true AI vs. big data and data engineering approaches.


John Reynders, Ph.D. MBA, is Vice President, Data Sciences, Genomics, and Bioinformatics (DGB) at Alexion. In his role, Dr. Reynders leads the DGB organization in the design, building, and deployment of data-sciences solutions spanning R&D, Commercial, Strategy, and Business Development. These solutions include a graph-database of the entire rare-disease landscape annotated with prevalence, severity, clinical trial options, and genetic signature; a genomics-based rare-disease patient prevalence platform to inform licensing/acquisition opportunities; and AI-based phenotype- and genome-driven rare- disease diagnosis decision-support systems.

In parallel to his DGB responsibilities at Alexion, Dr. Reynders also led the R&D strategy, portfolio and project management department, leading efforts across R&D capability strategy, pipeline project management, portfolio optimization, governance, and R&D operating models. Prior to joining Alexion, Dr. Reynders served as CIO of Moderna Therapeutics, where he created fully cloud-based biotech across all enterprise functions and developed informatics solutions to enable the design of messenger RNA therapeutics. Previously, John served as Vice President of R&D Information at AstraZeneca R&D leading teams in the US, UK, Sweden, Russia, Japan, and China to enable informatics and technology solutions across discovery, translational, clinical, pharmaceutical development, and regulatory functions. Before this, John served in leadership roles at Johnson & Johnson including VP Integrative Neuroscience and Biomarkers, Head of Informatics, and VP R&D Information Technology. Previously, John served as Information Officer with Lilly Research Laboratories, VP of Informatics at Celera Genomics, and held roles as Director and Program Manager at the Los Alamos National Laboratory.

Dr. Reynders received a Bachelor's, Summa Cum Laude, in Mathematics from Rensselaer Polytechnic Institute, a PhD in Applied and Computational Mathematics from Princeton University, and a Masters of Business Administration from the Northwestern University Kellogg School of Management.

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