Project 454757

1 in 12 Canadians is suffering from rare genetic disorder and every 30 minute a child is born with mutations affecting mitochondrial function. Mitochondria are little "factories" in our cells needed to generate energy in our body. Mitochondrial disorders are highly variable in the signs and symptoms. However, there are some symptoms common to many of these disorders with different mutations. This leads to uncertain responses to a drug in a trial, as the clinical trials mostly enroll patients with similar symptoms but different mutations. This creates imprecise treatments for patients with new mutations. Therefore a need arises for development of personalized clinical trial selection platforms for these patients to assess drug efficacy before enrollment in a trial. In this regard, we can now generate stem cells from patient blood cells, which can be converted into any desirable tissue type mirroring patient's clinical problems i.e. "Disease-in-a-Dish". This can be used to screen many probable drugs for the patient at a much faster and effective rate and help in choosing suitable clinical trial. Previously, we have generated Disease-in-a-Dish model for a 16-year-old male suffering from a rare mutation affecting mitochondrial function. This patient was enrolled in two clinical trials which did not benefit him. We created heart, brain and other cells from this patient's blood and tested several drugs. This helped the doctors and the patient to initiate decision-making to choose a suitable clinical trial. Long-term goal of our lab is to create a library of effective drugs for rare mutations in Manitoba. In my project, Disease-in-a-Dish model will be made for 10 patients. Drugs as discussed with doctors will be screened for efficacy. This knowledge will be shared with doctors and added to a digital library for future references. This will help the doctors to select suitable clinical trials for these patients and for patients with similar mutations in future.