The IRC5 aims to benefit individuals with callosal dysgenesis and their families in the longer term, by providing important information for families, treating physicians and other professionals, as well as for researchers in this field. It will also provide opportunities for training the next generation of scientists, doctors and neuropsychologists working in this area.
Our immediate goals are aligned with the following tangible benefits to all involved:
Genetic Causes & Syndromes
Identify the underlying genetic cause of these conditions. Understanding the genetic causes would likely tremendously enhance the capacity of clinicians to provide accurate prognostic information to families when diagnosis of the disorder is identified in the second trimester of pregnancy. It will also provide a way to classify the disorder or syndrome providing essential information on what challenges the individual will face in their life and will serve as the first step toward developing targeted therapies for these individuals. The establishment of a diagnosis also allows accurate genetic counseling with estimation of recurrence risk, and to monitor at-risk pregnancies.
Neurodevelopment & Brain Wiring
Discover how these causative genes result in callosal dysgenesis and changes in brain wiring during fetal development. This is crucial for understanding the full range mechanisms that cause DCC, and generating methods for treatment and or management of these disorders.
Behavior, Cognition & Development
Determine the intellectual, social and behavioural consequences associated with the genetics and changes in brain wiring related to DCC. In order to provide proper support and care for individuals with callosal dysgenesis, we need to understand in detail how their disorder will impact their lives and the lives of their family. We need longitudinal data on these aspects so we can understand how the disorder impacts people at different stages of their life. This information is crucial for identifying and dealing with the challenges faced by individuals, and for promoting the positive and beneficial aspects of brain plasticity that could occur in individuals with callosal dysgenesis. This last point is important because by understanding the fundamental mechanisms of brain plasticity, we may be able to promote through cognitive intervention changes in brain plasticity that benefit people with these disorders and possibly also in people with a wide range of other brain wiring disorders, or after stroke, brain injury or in brain degeneration.