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Five new Wikipedia articles were created on the day in the following rare diseases: SLC6A1 epileptic encephalopathy, Spastic paraplegia 15, Arboleda-Tham syndrome (KAT6A syndrome), KCNQ2 developmental and epileptic encephalopathy and HNRNPH2-related disorders. Two more draft pages were created for SATB2-associated syndrome and SLC13A5 citrate transporter disorder. Dr Clara Tang, Alliance Strategy Manager, who led the … Continued

Cambridge, UK – July 20, 2022. Healx, the AI-powered, patient-inspired technology company pioneering the next generation of drug discovery for rare diseases, shared promising data about several AI-predicted candidates for the management of fragile X syndrome (FXS) in a poster and oral presentation at the National Fragile X Foundation’s International Conference in San Diego, California … Continued