Get an overview of what we are currently doing to improve and accelerate rare diseases diagnosis
Keep up to date with Mendelian's research, read up on our latest publications, reports and posters to find out how our technology accelerates diagnosis and can help in reducing cost of care.
2022: Mendelian year in review
In 2022 MendelScan was used to scan the records of 672,026 real-world patients for over 40 diseases. Learn more about MendelScan and how our team of data scientists and clinicians use large, real-world data sets to isolate EHR patient phenotype signatures.
Reducing the diagnostic odyssey of HHT
We demonstrate how a digital health tool that scans EHRs may lead to an earlier diagnosis of Hereditary Hemorrhagic Telangiectasia
Health economic study
A preliminary assessment of the potential impact of rare diseases on the NHS. Rare diseases are an increasingly recognised health priority due to their impact, severity and burden on the patient, their family and the health system.
Ethical issues arising from the identification of patients with undiagnosed rare diseases from electronic patient records in prospective scenarios.
Early identification of rare diseases patients
Rare disease patients frecuently experience a significant delay in diagnosis. This study shows a novel digital approach, scanning Electronic Health Records at scale, may lead to earlier diagnosis.
Reducing the diagnostic odyssey
We show that a digital health approach may lead to earlier diagnosis by scanning Electronic Health Records (EHR), at scale, to identify patients with rare undiagnosed diseases.