Rare disease research at BC Children's Hospital has received a generous investment from the BC Children's Hospital Foundation through the CHIPS program. This donor funding has enabled us to create a unique infrastructure for individual patients and families with rare disorders in BC.
There are two parts ('phases') of the project.
The first phase provides access to a bioinformatician to re-analyze any genomic data (clinical or research) currently available for undiagnosed patients in whom a monogenic disorder is strongly suspected. The main aim is to identify candidate gene variants for further research. Families must, of course, be interested and agreeable in enrolling in this research activity. The study coordinator is available to initiate contact with the families, discuss the study with them, and gain informed consent to participate. The study coordinator will also facilitate the process of obtaining genomic data from the appropriate source as well as extracting medical/family history and phenotypic information from the medical charts.
The second phase of the Hub supports functional investigation of candidate variants. In compelling cases, the candidate variant does not necessarily need to be a novel disease gene. If a referring physician has a candidate gene and a hypothesis, they will be asked to present to the steering committee and together, they will evaluate the tractability of the project, suggest appropriate assays, and identify willing investigators (who may or may not be located on site). Please keep in mind that projects must be related to a specific BC-based patient(s).