I’m a human geneticist and was the Director of the Imagine Institute from 2016 to 2025. I am professor of Genetics at Paris Cité University and a clinical geneticist at Hôpital Necker-Enfants Malades. My work at the Imagine Institute (Institute of Genetic Diseases) focusses on genetic conditions resulting from inborn errors of development. As a paediatrician, I have also dealt with children and families affected with malformation syndromes caused by the effects of a disease gene operating or non operating during development.
The great challenge of genetics today is no longer reading DNA, but understanding which of the millions of genetic variations truly influence health, disease, and human diversity.
The story of Corentin and his family shows the difficult journey of the family of a child with a rare disease. Rare genetic diseases often involve family history and affect family plans for the future. As a result, such diseases can be a heavy burden on parents, as well as children, throughout their lifetime.
Gene therapies are transforming medicine by using our growing understanding of DNA to repair, replace, or correct faulty genes and offer new hope for treating rare and previously incurable diseases.
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