At Medialis Ltd our focus is rare diseases. Our third #RareDiseaseSpotlight in the 2022 series is Angelman syndrome, a rare neurodevelopmental disorder. It is characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. With the care and support from patient organizations Angelman Syndrome Foundation, Foundation for Angelman Syndrome Therapeutics, National Institute of Neurological Disorders and Stroke (NINDS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Epilepsy Foundation, and #CanadianAngelmanSyndromeSociety, and their experts who serve as medical advisors, patient-centred resources and services, and research, have become a reality.
For more details on Angelman syndrome, follow the links in our Spotlight below: Neuren Pharmaceuticals Limited Ovid Therapeutics GENETX LIMITED Ionis Pharmaceuticals, Inc. Neurim Pharmaceuticals Ltd #NNZ2591 #OV101 #GTZ102 #ION582 #circadin