This collaboration, which promises to transform the lives of children from coast to coast to coast, is a shining example of the power of the Precision Child Health Partnership (PCHP), an unprecedented initiative made possible by a $50 million gift from the Azrieli Foundation in 2023. The PCHP combines the research efforts of CHU Sainte-Justine and The Hospital for Sick Children (SickKids) to bring patients a new generation of precision care that takes advantage of emerging technologies and advances in genomics.
Two years after the launch of the PCHP, the impact of the Azrieli Foundation’s transformational gift is being felt more than ever. With its solid foundation, the PCHP is bringing leading-edge research initiatives to life and inspiring other major donors to join the movement. This year, a key contribution from the Pathy Family, along with the generous support of the Birks Family Foundation, has enabled us to reach a new milestone and propel innovative projects like ASO Connect.
ASOs: Stopping Disease at its Source
ASO-based technologies have been studied for over twenty years and have already demonstrated their effectiveness in adults. They have the potential to be used in the treatment of a large number of rare diseases. However, they are not widely available to the pediatric population, something that Drs. Campeau and Costain hope to remedy with ASO Connect.
This project got off the ground this year thanks to the Translational Program, a flagship initiative of the PCHP, which provides funding to transform scientific discoveries into concrete applications at the patient’s bedside.
7,000 rare diseases have been identified to date. For most of them, there are still no effective treatments. Even if each of them affects only a limited number of individuals, they collectively represent a major health issue: 1 in 15 children in Canada has a rare disease, and in one third of these cases the children affected will die before they turn 5. A dire situation which the Sainte-Justine research teams aim to reverse.
Thanks to significant advances in genomics, the genetic origin of rare diseases is now known in 50% of cases. For these children, we know which defective genes are giving the body’s cells faulty instructions—which cause the cascade of consequences that leads to their disease.
ASOs intervene at the very start of this chain reaction, slowing down or even blocking the process before it affects the entire body. Several ASO therapies have been proven to prevent or slow the onset of disease by correcting these erroneous instructions in different ways, and there is every reason to believe that these successes can be multiplied as science advances.
With ASO Connect, Drs. Campeau and Costain aim to develop an infrastructure to more quickly identify children who would most benefit from these treatments. They also hope to accelerate the development of new ASO therapies and share their characteristics via an open-access platform to bring new avenues of treatment to children all over the world.
ASO Connect is a transformative step towards targeted treatment and better outcomes for children everywhere. When it comes to rare diseases in pediatrics, we have the opportunity to change the paradigm, and thanks to this funding, we will.
© The Hospital for Sick Children (SickKids)