The Alberta Children’s Hospital Research Institute in Calgary, Alberta is dedicated to advancing rare disease research by conducting innovative investigations, fostering interdisciplinary collaboration, and translating discoveries into improved diagnostics, treatments, and outcomes for children affected by rare diseases. The disease areas are broad, spanning neurology, genetics, hematology, and oncology. The Institute generates comprehensive data on rare diseases, including clinical, genomic, and patient-reported information. This multidimensional understanding fosters advancements in diagnostics, treatments, and outcomes for children affected by rare conditions.

Patient Involvement: Patients contribute through advisory roles, active participation in data generation through surveys and registries, and engagement in advocacy and awareness efforts. These patient roles ensure that research aligns with the needs and perspectives of those directly affected by rare conditions.

Initiatives: An example of work from scientists at the Alberta Children’s Hospital Research Institute and international collaborators was the discovery of a rare CELF2 protein variant linked to malformations in the cerebral cortex. The work informed efforts to improve diagnostic screening for developmental disorders such as autism spectrum disorder, speech delays, and intellectual disability.

For general inquiries: https://research4kids.ucalgary.ca/contacts

For more information: https://research4kids.ucalgary.ca/about

Pubmed search: https://pubmed.ncbi.nlm.nih.gov/34107259/