Designing a tool for better diagnosis of rare and genetic diseases

Scientists have identified over 10,000 rare diseases with the majority of these diseases being genetic in origin. The vast majority of patients with these diseases experience long and grueling diagnostic odysseys and their early treatment is hindered. In 2017, a team of researchers released PubCaseFinder, a web-based clinical decision support system that guides clinicians in diagnosing these rare/genetic diseases. Now those researchers have updated PubCaseFinder, improving its reliability and making it even more useful to medical professionals working to diagnose rare/genetic diseases.

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