Grant: Project Grant

Our research aims to address the problem of certain uncommon forms of diabetes that are often incorrectly diagnosed and, as a consequence, prescribed a treatment that is not the best for the specific patient. There are different causes of diabetes but, in children, the most common form is type 1 diabetes (T1D) that results from autoimmune destruction of the beta cells in the pancreas that produce insulin. Insulin by injections or by pump is the only treatment. Type 2 diabetes, due to obesity and sedentary life, can rarely be seen in teenagers but in a non-obese individual under the age of 18, a high blood sugar is automatically diagnosed as T1D and treated with insulin injections. This is correct in most cases but about 1% of children diagnosed as T1D have uncommon genetic forms of diabetes. These patients have the same symptoms as T1D and are clinically indistinguishable from T1D but they have intact beta cells that only need some "help" and can be treated with pills. We propose that the percentage of these cases is higher than 1%, because we have evidence that not all genes whose mutations cause these uncommon forms have been discovered. In our cross-country collaboration, we will test 5,000 Canadian children and we will select about 1,000 who are the best candidates for a whole exome sequencing, a state-of-the-art technology that allows a thorough examination of all 18,000 known human genes. With the new genes that we will discover, we expect that the total number of such cases will be considerably more than 1%. The number of cases is small, but across Canada there are as many as 3,000 or more patients that can benefit from this life-changing diagnosis. More important than pills vs. injections is that the pills allow much better control of the blood sugar that helps prevent the long-term complications of diabetes (blindness, kidney failure, amputations)