

"Accelerating rare disease diagnosis through AI-driven case finding in primary care"
Mendelian builds software that helps doctors identify patients with rare diseases years earlier. Their platform, MendelScan, scans electronic health records across populations, matching clinical features to diagnostic criteria for hundreds of conditions. Healthcare providers receive detailed reports explaining suspected diseases, evidence, and recommended pathways. Rare diseases affect 1 in 17 people worldwide but take an average of 4 years to diagnose, involving multiple misdiagnoses and unnecessary referrals. Mendelian addresses this odyssey by bringing specialist insights to primary care. Their clinician-led approach, deployed within the NHS, reduces diagnostic costs by up to 76% while identifying patients who would otherwise remain undiagnosed.


18
Team Members
2015
Founded
Digital Health
Sector
Hybrid
Work Environment
A healthcare system where no patient endures years of misdiagnosis and unnecessary suffering because their rare condition went unrecognised, and every person receives timely, accurate diagnosis regardless of how uncommon their disease may be.
At Mendelian, our mission is to make rare diseases our priority by helping to end the diagnostic odyssey and bringing timely patient insights to primary care.