Grant: Project Grant

Rare diseases are common. There are more than 6000 rare diseases, and though each affects fewer than 1 person in 2000, together they affect between 6% and 8% of the population. This means approximately 500,000 Canadian children and youth live with a rare disease. Rare diseases that are not fatal in childhood often lead to long-term complications in adulthood. These can include increased risk for common adult-onset diseases such as cancers and diabetes. Most rare diseases have a genetic cause, but the majority of sufferers will need multiple medical tests over many years until they get a final diagnosis. Currently, 25% of rare disease patients wait 5-30 years for a diagnosis, 40% initially receive a misdiagnosis, and half will never receive a diagnosis. This "Diagnostic Odyssey" is notorious for being time-consuming, emotionally draining and expensive for health care systems and for the families. A subset of rare diseases affect growth, causing the person to be unusually short or unusually tall. Tall stature syndromes often cause overgrowth elsewhere in the body, leading to large head size and obesity. We want to diagnose patients with these rare overgrowth syndromes by finding new molecular causes of disease. Our goal is to understand how changes in these genes and pathways damage the body's organ systems, so we can design better treatments and care. Furthermore, because overgrowth disorders in particular have an increased susceptibility to a variety of childhood- and adult-onset cancers, we believe that our insights from these rare diseases will also help us understand how common cancers arise and evolve into more aggressive forms.