Artificial intelligence (AI) and machine learning (ML) research within medicine has been
exponentially increasing over the last decade, with studies showcasing the potential of …

Background BaMaRa allows the secure collection and deidentified centralization of medical
data from all patients followed-up in a rare disease expert network in France, based on a …

Variants in the RNA binding protein (RBP) U2AF2 are hypothesized to cause a novel
neurodevelopmental disorder. Here, we report a patient with a de novo missense variant in …

Special combined efforts addressing rare diseases should apply economic principles and
methods to maximize returns to research and investment. Four opportunities exist:(1) …

Rare diseases are medical conditions that affect a small number of people compared to the
general population. There are more than 10,000 estimated rare diseases with 80% being …

People with a rare condition face several hurdles throughout their odyssey to obtain a
diagnosis. This odyssey lasts several years and involves frequent referrals and …