Rare diseases are a major cause of sickness and death during the first year of life. It is thus important to obtain a speedy diagnosis in the case of young children, for rare diseases will often also evolve rapidly. Early interventions can sometimes have a lifelong impact in such cases. Identifying the cause of these diseases is nonetheless very difficult so early on, for they do not appear with a great deal of preciseness, nor any differently than diseases in older children.
Investigating suspected rare diseases in newborns and infants often consists of a long diagnostic journey, great uncertainty in terms of case management, lengthy hospital stays and very high costs for the healthcare system. These rare diseases include neurodevelopmental disorders.
Dr. Michaud’s research project focuses on neurodevelopmental disorders.
His activities include using new genome sequencing technologies to identify the genes associated with intellectual disabilities, autism and epilepsy. Dr. Michaud has to date identified 25 genes responsible for these various conditions and his team has discovered and illustrated that spontaneous mutations (i.e., which are not hereditary) are a major cause of intellectual disabilities.
Neurodevelopmental disorders (NDD) impact 10% of the Québec population and around 17% of children and adolescents under the age of 18. These diseases are numerous and vary in severity: learning disabilities, intellectual disabilities, cerebral palsy, autism, epilepsy, brain abnormalities, neurogenetic diseases and Tourette syndrome. Neurodevelopmental disorders can greatly affect patients and their families; their overall severity, chronicity and progressive nature generally lead to major disabilities and often, death. These disorders are also taxing on the healthcare system and economy. Most neurodevelopmental disorders, moreover, are not presently treatable and perhaps most importantly, the vast majority of them are never diagnosed. Patients living with undiagnosed neurodevelopmental disorders often receive suboptimal and uninformed medical care as a result of a lack of pathogenic knowledge and the absence of a concomitant history.
ONE LAST STEP BEFORE THE IMPLEMENTATION OF RAPID GENOME SEQUENCING THROUGHOUT THE QUÉBEC HEALTHCARE SYSTEM
Many recent studies show that genome sequencing of newborns shortly after their being admitted to the ICU due to a suspected rare disease leads to a greatly improved diagnosis, optimized clinical case management and a drop in the costs associated with the disease’s investigation.
The healthcare network's 4 pediatric hospital centres (CHUQ, CHUS, CHUM, CHUSJ), in cooperation with Dr. Michaud, have created a project for studying the use of rapid genome sequencing in newborns and infants admitted to the ICU with a suspected single-gene disorder.
This project will make it possible to establish eligibility criteria for access to such analyses for the very young. This will be done by identifying subgroups in which this approach has a high success rate in terms of diagnoses, specific procedures for obtaining consent in the NICU, and optimal methods for performing complete genome analyses tailored to the specific needs of newborns and infants.
The data resulting from this project will enable participating centres to prepare a proposal for this analytical process’ use in the healthcare system and in so doing, add clinical genomics to the services currently offered.
A promising scientific initiative, supported by the Foundation of Stars!