Katherine Poinsatte,  —

‘Unacceptable’ situations faced by people with rare diseases in Europe

Nearly three-quarters of Europeans surveyed would not accept a scenario where their loved ones with a rare disease had to wait several years to be diagnosed. This is according to recent results from the third European Rare Disease Observatory, a large survey of more than 11,000 people in…

AI model identifies existing drugs to repurpose for rare diseases

An artificial intelligence (AI) model could identify possible therapies for thousands of diseases from existing treatments, according to Harvard Medical School researchers. These diseases include rare disorders such as aromatic I-amino acid decarboxylase (AADC) deficiency, for which there is currently no treatment. The model, called TxGNN, closely resembles the…