Building a Clinically Significant Rare Disease Data Master

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