Rare Diseases

Machine-Learning Approach Aims to Optimize Rare Disease Diagnosis

February 9, 2023 - A recent study from Stanford University Human-Centered Artificial Intelligence (Stanford HAI) described the creation of a machine-learning framework, known as POPDx, that aims to enhance the rare disease detection process by predicting a comprehensive set of diagnosis codes. The framework was created to predict diagnosis codes for all patients in...


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AI Supports Clinical Trial for Rare Genetic Disease Treatment

by Mark Melchionna

Artificial intelligence (AI) supported a clinical trial focused on assessing treatment methods for a rare genetic disease known as activity-dependent neuroprotective protein (ADNP) syndrome. ADNP...

Researchers to Use Predictive Analytics to Forecast Rare Disease Development

by Shania Kennedy

A research team from University of Florida (UF) Health and the University of Pennsylvania Perelman School of Medicine (Penn Medicine) have announced that they will develop a set of predictive analytics...

New Gene May Help Target Therapies for Intellectual Disabilities

by Erin McNemar, MPA

Researchers at the University of Maryland School of Medicine (UMSOM) have identified a new gene called AP1G1 that could be linked to certain neurodevelopmental disorders and intellectual disabilities,...