Rare disease challenges
No single authority providing a comprehensive list of rare disease definitions - this is is the backbone to which all clinically relevant information can be mapped
Poor understanding and alignment around what makes up a rare condition in academia, clinics, and healthcare
Belief that there are between 7,000 to 9,000 rare conditions depending which source you consult, yet our complete set contains over 12,000 conditions with 7,230 from Orphanet - and many still being defined
Gaps in the medical coding (SNOMED-CT and ICD-10) coverage of rare diseases - there are 128 ICD-10 codes mapped to a rare condition
161 conditions with approved drugs
Getting life-saving information to doctors and patients quickly
Doctors and patients get actionable, coordinated information in days not weeks
Doctor and patient engagement creates a knowledge exchange –flywheel/network effect that makes solution better over time
Create patient-centric communities around genetics, symptoms and treatments that work – potential to scale through crowdsourcing
Provide re-diagnosis and updated treatment guidelines to doctors and healthcare systems
Sebastien Lefebvre, Senior Director - Data Sciences, Genetics, and Bioinformatics at Alexion Pharmaceuticals, talks how to bring analytics to the data and not the other way around. He explains the approach of using KNIME to create "Analytical Recipes" and sharing these with partners so they can run analyses against their own data set.
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KNIME for Life Sciences
Access, transform, and interact with large amounts of life science data.