Fanconi Cancer Foundation is the world-leader in advancing FA research that has increased life expectancies and improved the quality of life for people with FA. Scientific and medical knowledge is advancing faster than ever. However, there are still unmet needs.

Because FA is a rare disease that can lead to the rapid development of cancer and because FA patients with cancer cannot be treated as effectively with conventional therapies, novel therapeutics are crucial. Novel therapeutics are those that have the capacity to completely shift the paradigm of how cancer is treated. These therapies go current thinking to provide an avenue to target cancer cells using strategies that are not yet mainstream and mechanisms that are currently uncharted.

At Fanconi Cancer Foundation, we are driving the concept of identifying novel therapies for patients with the cancer predisposition syndrome FA. We do this by engaging and collaborating with academic, industry, and corporate partners, and funding exceptional research.

Gene editing and gene therapy

Gene therapy addresses the root cause of DNA repair diseases like FA by enabling cells to express a copy of a normal FA gene, allowing them to produce proteins necessary for health. If we can fix the defect in stem cells, then all blood cells that are derived from a stem cell are also fixed. This should restore normal function to diseased stem cells and prevent bone marrow failure (BMF). 

Gene therapy trials to address bone marrow failure are underway on two continents and seeing early signs of success. They offer great potential for a safe, easily accessible, and cost-effective therapeutic option to treat FA-related bone marrow failure that can be used worldwide. Now researchers are asking the question: what if we could correct other cells in the body beyond blood cells? FA affects all cells, so this kind of correction, in theory, would constitute a cure. 

That’s where gene editing comes in. The first ever FA gene editing consortium, funded in 2023, will test gene editing technologies for all major FA mutations using laboratory-based techniques over two years. The goal is to rapidly develop a translational protocol that will eventually be tested in clinical trials.