Our tool helps you streamline rare disease patient diagnosis
Do you think you have a Rare Disease? Do you want a second clinical opinion?
Rare diseases are complex. On average, they take 7 years and 8 doctors to diagnose.
We have developed a tool that simplifies the process by offering the most accurate rare diseases and syndromes finder.
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Mendelian is an online rare disease search engine, built with the aim of increasing diagnostic hit rates. Rare diseases and syndromes, their associated genes along with existing gene panels, are algorithmically matched to phenotypes.
Confronted with a rare disease or syndrome case, patient's clinical features are first entered into www.mendelian.co, the tool outputs a focused shortlist of genes, diseases or disease clusters for consideration. For each result, Mendelian displays the underlying genetics, potential gene panels and a respective match score.
Only half the patients referred to a clinical geneticist for diagnosis of a genetic disorder will be diagnosed. Those patients may subsequently be referred to several physicians, undergo numerous clinical tests and if lucky be offered next-generation genome sequencing to search for causative genes.
Of those referred for genome sequencing, only about 25% will eventually get a confirmed diagnosis. On average, it takes 5.6 years in the UK for a rare disease patient to be diagnosed
Coming soon
Coming soon