Ben Neel imageCancer and heart disease aren't areas of medicine that we normally think of together. But for a group of Toronto and Boston researchers, collaboration across their areas of specialization has given them a new understanding of some congenital heart diseases, and revealed a  potential target for tailored treatment, or "personalized medicine."

The researchers studying genetic pathways that are mutated in many forms of cancer, but which also cause certain forms of congenital heart disease—including hypertrophic cardiomyopathy (HCM), a thickening of the heart muscle that is the leading cause of sudden death in children and young adults—have found two drugs that could potentially treat congenital heart disease. One drug tested is already approved as an immunosuppressant and the other is being tested as an anti- cancer agent.

"These findings exemplify the importance of basic biological research and collaboration across areas of specialization. In this instance, collaboration showed how understanding cancer can lead to unexpected insights into congenital heart disease, and vice versa," says Dr. Benjamin Neel, Director, Ontario Cancer Institute at PMH.

Dr. Neel led the two separate, but related studies, undertaken here at UHN and at Beth Israel Deaconess Medical Centre in Boston.

"By studying two of the most commonly mutated pathways in cancer, discerning the mechanism by which they cause congenital disease, and treating two of these disorders with different drugs, we have identified potential therapeutic targets for human disease," says Dr. Neel. "This is what personalized medicine is all about: understanding in detail how different mutations cause disease, and then targeting these mutations appropriately to tailor individualized treatment."​

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