A roadmap for patient and disease registries: Linking health data to enhance rare disease decision-making
Canada’s Drug Agency, in collaboration with the Institute for Clinical Evaluative Sciences (ICES) and the Health Data Research Network Canada (HDRN), has released a roadmap to help patient and disease registry teams link data with health services records, advancing rare disease research and care.
New genetic discoveries linked to neurodevelopmental diseases
A recent study published in Science has identified crucial genetic mutations in the TRiC chaperonin complex linked to severe brain malformations, offering new diagnostic and treatment possibilities for rare disease patients worldwide, with 22 individuals diagnosed so far through international collaboration led by Dr. Hanns Lochmüller.