The Hospital for Sick Children (SickKids) in Toronto, Ontario is dedicated to advancing research, diagnosis, and treatment of rare diseases in children. SickKids aims to improve the understanding of rare disease, including patient outcomes and overall quality of life, through innovative medical approaches and collaborative efforts. The organization focuses on an array of rare diseases in children, encompassing genetic disorders, metabolic conditions, rare cancers, and other uncommon pediatric illnesses.

SickKids collects a comprehensive range of data, including clinical information from electronic health records, genomic and molecular data for genetic research, patient-reported outcomes, biobank samples, and administrative data. Further, SickKids has contributed to the development of patient registries, offering a potential source of high-quality data on rare diseases for researchers worldwide.

Patient Involvement: Patients are actively involved in rare disease initiatives at SickKids through avenues such as patient and family advisory councils where experiences and perspectives guide research and clinical efforts. The patient-centered approach of SickKids helps shape treatment strategies, research priorities, and healthcare initiatives related to rare diseases.

Initiatives: As an example of rare disease initiatives at SickKids, researchers recently conducted a gene therapy trial for SPG50 in one of the first examples or personalized genetic medicine, and developed an atlas of every known pediatric cancer to enable faster and more accurate identification and diagnosis.

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