02/04/2023
Meet the Venerable who discovered the genetic basis of Down's syndrome, which he named trisomy 21 - Venerable Dr. Jérôme Lejeune (13 June 1926 – 3 April 1994). Jérôme Lejeune was born in 1926 in Montrouge, a Parisian suburb. He studied medicine and became a researcher in 1952, eventually becoming an international expert for France on atomic radiation. In 1958, while working in Professor Turpin’s laboratory, Dr Jérôme Lejeune discovered the genetic cause of what was then known as Mongolism: an extra chromosome in pair 21. On 26th January 1959, the Academy of Science published his scientific work (Jérôme Lejeune, Marthe Gautier and Raymond Turpin. Human chromosomes in tissue culture. C. R. Acad. Sciences, 26th January 1959). This condition would henceforth be called Trisomy 21.
For the first time in the world, a link had been established between an intellectual disability and a chromosome abnormality. Parents of children with Down syndrome could now know that their children’s’ condition was not hereditary. He later discovered the cause of many other chromosome abnormalities, thereby opening the way to cytogenetics and modern genetics. Although the results of his research should have helped medicine to advance towards a cure, they are often used to identify children carrying these conditions as early as possible, usually with the aim of terminating pregnancy. Lejeune was propelled to the forefront of advocating for the protection of the unborn with Down syndrome. He gave hundreds of conferences and interviews across the globe in defense of life. He died of cancer on the 3rd of April 1994, Easter morning, 33 days after his appointment as president of the Pontifical Academy for Life.