Les lundis de l'UTL : Conférence : Mucoviscidose: de la feuille blanche à un traitement spécifique

by Claude FEREC, Professor Emeritus of Medical Genetics at the University of Western Brittany. Inserm UMR 1078 Brest. Head of Scientific Integrity at the University of Western Brittany. 45 years ago, no disease-causing gene had been identified, which shows the progress made since the 1980s. Today, 4,000 disease genes have been cloned, many of which are responsible for rare or even very rare diseases. Cystic fibrosis, the most common serious genetic disease in children, is emblematic in this respect. In Brittany, it affects one in 3,000 newborns, and the identification of the gene responsible in 1989 allowed the implementation of neonatal screening for all newborns, first in Brittany and then throughout the country from 2001. Knowledge of gene mutations has also made it possible to offer prenatal diagnosis of the disease for families at risk, and more recently, the emergence and implementation of specific treatments that have considerably changed the lives of patients and their families. Having actively participated in this research for 40 years, we will return during this conference to the progress made in the context of this disease, which is today a model illustrating how much progress in science has benefited medicine for the benefit of patients suffering from genetic diseases.

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