Jerome lejeune and human life

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.

Heading the Cytogenetics Unit at the Hospital Necker- Enfants Malades in Paris, his consultations became among the most sought after in the world. Helped by his co-workers, he investigated over 30,000 chromosome cases and treated more than 9,000 persons with these conditions.

His utmost concern was to one day succeed in healing the maladies of the patients who came to see him from around the world. He showed the personhood of his patients, and reminded us that as a civilization we must always seek to protect our most vulnerable members.

Abstract

Jérôme Lejeune was a French physician and geneticist whose crucial contribution to the field of medicine was the discovery of an extra copy of chromosome 21 in those presenting with a range of physical and developmental anomalies known as Down syndrome. From this discovery on, the condition had a new name (trisomy 21) and a specific scientific explanation that left no room for discrimination against those affected and their parents. Lejeune promoted the idea that a medical doctor should hate the condition and love the patient: while working to find a cure for trisomy 21, Lejeune was also able to reassure his patients and their families and lead them out from under a long-standing stigma inflicted upon them. He was also considered an expert in nuclear radiation and its effects on human genetic material.

Keywords: chromosomal anomaly, chromosomes, cytogenetics, disability, genetics, nuclear radiation, stigma, trisomy 21

Introduction and background

The aim of this article is to highlight the pivotal contributions of Jérôme Lejeune to genetics, particularly cytogenetics. Lejeune was a French pediatrician and geneticist who began his career working with children with Down syndrome under the supervision of Professor Raymond Turpin. Concurrently, he also had an interest in nuclear radiation, concerning the potential effects on human genetic material. He became an internationally recognized expert also in this field.

In 1956, following the discovery by Levan and Tjio that human somatic cells contain 46 chromosomes, Lejeune pursued the hypothesis that Down syndrome was caused by a chromosomal irregularity (Figure 1) [1]. In order to do so, it was crucial the unique cell culture technique brought back to France from the United States by colleague Martha Gautier [2]. He confirmed this hypothesis in 1958 by identifying an extra chromosom

French pediatrician and geneticist (1926–1994)

Jérôme Jean Louis Marie Lejeune (French pronunciation:[ʒeʁomʒɑ̃lwimaʁiləʒœn]; 13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for his work on the link of diseases to chromosome abnormalities, most especially the link between Down Syndrome and trisomy-21 and cri du chat syndrome, amongst several others, and for his subsequent strong opposition to the improper and immoral use of amniocentesisprenatal testing for eugenic purposes through selective and elective abortion. He is venerated in the Catholic Church, having been declared Venerable by Pope Francis on 21 January 2021.

Career

Discovering trisomy 21

In 1958, while working in Raymond Turpin’s laboratory with Marthe Gautier, Jérôme Lejeune reported that he had discovered that Down syndrome was caused by an extra copy of chromosome 21. According to Lejeune's laboratory notebooks, he made the observation demonstrating the link on 22 May 1958. The discovery was published by the French Academy of Sciences with Lejeune as first author, Gautier as second author, and Turpin as senior author. In 2009, co-author Gautier claimed that the discovery was based on fibroblast tissue samples that she had prepared and noticed the discrepancy in chromosome count on. This discovery was the first time that a defect in intellectual development was shown to be linked to chromosomal abnormalities.

Origins of the discovery

In the early 1950s, Lejeune joined the department headed by Turpin, who suggested that Lejeune focus his research on the causes of Down syndrome. As early as 1953, the two men showed a connection between an individual's characteristics and his or her dermatoglyphs–the fingerprints and lines on the hand. The structure of these lines, which remain the same throughout the individual's life, is determined during the earliest s

ALL About Issues Fall 1991

GENES & HUMAN LIFE by Professor Jerome Lejeune

Testimony given to the Louisiana State Legislature on June 7, 1990 . Reprinted with permission from the January 1991 HLI Reports.

Curiously, Mr. Chairman, the natural sciences and the science of jurisprudence are speaking roughly the same language. Before you can enact a Constitution, you have to spell out each of its terms. And then you have to get it voted on. Man's natural Constitution, too, must be spelled out in all its terms. We call them genes, and they are carried by chromosomes. There is also a voting process which is fertilization. Only about one in a billion sperm will be elected to produce this new set of information. Once the head of the sperm has gone inside the zona pellucida, which is a kind of plastic bag which protects the private life of the early human being, there comes a moment when a new human constitution is voted for and enacted.

Roe v. Wade said that because nobody can really know at what moment human life begins, we are free to decide such and such. Since then 17 years have elapsed, and science has made vertiginous progress. I'm going to tell you how much more we know now about the beginning of the human person than we knew 17 years ago.

Life has a very, very long story. It has been transmitted for millennia inside the human race. But each of us has a very precise starting moment, which is the time at which the whole necessary and sufficient genetic information is gathered inside one cell, the fertilized egg, and this moment is the moment of fertilization. There is not the slightest doubt about that.

We know that this information is written on a kind of ribbon which we call DNA. It's a long molecule on which, under a specific code, all the qualities of the future person are defined. It measures exactly one meter in length inside the sperm, split into 23 little bits inside the chromosomes, and one meter inside the ovum; so that at th