Every child is unique. No one set of genetic, physiological, medical and social variables is the same. Precision medicine is making the hope of better health outcomes more attainable than ever. The ultimate goal? To evolve from the model of a single treatment addressing as wide a swath of patients as possible to one where each treatment is fully personalized to target individual needs. Sainte-Justine is currently at the forefront of this medical revolution. With your help, we know we can do even more. The progress made thus far is just the tip of the iceberg.
Lyana has a severe form of Noonan syndrome, which is one of the most frequently occurring of the rare genetic disorders, affecting about one in every 2,000 children. She literally owes her life to the advances that have been made in precision medicine.
Building on years of hard work, researchers at Sainte-Justine discovered that trametinib, a drug usually prescribed to treat certain types of cancer, is also effective in preventing her heart muscle from thickening.
Without treatment, Lyana had a one-in-five chance of making it to her second birthday. The discovery saved not only her life, but also many other young lives around the world.
Nearly half a million Canadian children are living with one of 7,000 rare diseases. Half of these are undiagnosed. One out of three will die before they reach the age of five. As it currently stands, a condition like this takes five years on average to diagnose.
Sainte-Justine is leading the way in finding solutions for these patients. As a hospital with a provincial mandate, it serves families from across Quebec. The resulting critical mass of patients, along with the expertise of the healthcare and research teams, and the avant-garde medical technologies available at Sainte-Justine, make it a hub for advancing this type of knowledge.
Because of your support for these research efforts, scientists have access to sophisticated genome sequencing techniques, state-of-the-art medial technologies and artificial intelligence to develop new insights into these conditions an ongoing basis.
In Lyana’s case, as in many others, a closer look at the genetic mutation at the root of her condition unlocked the door to some novel possibilities.
Some diseases that present very differently actually have an identical or similar genetic mutation. Depending on when this mutation arises in the course of a life, it can result in a variety of pathologies. In Lyana’s case, it’s Noonan syndrome. For others, it might be cancer, a neurological disorder or an arteriovenous malformation. But because the source of each condition is the same, there are chances that a treatment that helps with one might actually be effective in another case as well.
Dr. Marie-Ange Delrue
Trametinib helped shrink Lyana’s critically enlarged heart to a normal size. In November, she will be celebrating her fourth birthday. And it’s all due to the life-changing – and live-saving – impact of precision medicine.
Further developments in this direction are a central priority for the teams at Sainte-Justine. This approach eschews the idea of an “average” patient, instead embracing the principle that every individual is unique. Every factor – from their genetic code to their postal code – is taken into consideration in their diagnosis and treatment plan.
There are still lots of unanswered questions. In Lyana’s case, we don’t know what the side effects of the long-term use of this drug are. We’ve also seen that trametinib doesn’t work on all children with this syndrome.
Dr. Gregor Andelfinger
By funding the technologies that drive precision medicine and the exploration of new ideas, you are making it possible for today’s patients and future generations to obtain earlier and more accurate diagnoses as well as treatments that are better adapted to their specific profile. The road ahead may still be fraught with obstacles, but we know you are there to help the teams at Sainte-Justine go the distance.