Jérôme Lejeune

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Venerable
Jérôme Lejeune
Jerome Lejeune.jpg
Lejeune in 1973
Born(1926-06-13)13 June 1926
Montrouge, Hauts-de-Seine, France
Died3 April 1994(1994-04-03) (aged 67)
Paris, France
Alma mater Collège Stanislas de Paris
Paris School of Medicine
Spouse(s)Birthe Lejeune, née Bringsted
Children Clara Gaymard
Awards Joseph P. Kennedy, Jr. Foundation Award (1962) [1]
William Allan Award (1969)
Leopold Griffuel Prize (1992) [2]
Scientific career
Fields
Institutions

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 amniocentesis prenatal testing for eugenic purposes through selective and elective abortion. [4] He is venerated in the Catholic Church, having been declared Venerable by Pope Francis on 21 January 2021. [5]

Contents

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. [6] 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. [7] This discovery was the first time that a defect in intellectual development was shown to be linked to chromosomal abnormalities. [8] [9]

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 stages of embryo development. As Lejeune and Turpin studied the hands of children with Down syndrome, they deduced that their dermatoglyphic anomalies appeared during embryo formation.

In 1956, biologists from Lund University in Sweden announced that humans have exactly 46 chromosomes. Turpin had many years earlier proposed the idea of culturing cells to count the number of chromosomes in trisomy. Gautier had recently joined the pediatrics group he headed at the Armand-Trousseau Hospital, and she offered to attempt this, since she had been trained in both cell culture and tissue staining techniques in the United States. [10] Turpin agreed to provide her with tissue samples from patients with Down syndrome. With very limited resources Gautier set up the first in vitro cell culture laboratory in France. [11]

At the time, the laboratories at the Armand-Trousseau hospital did not have a microscope capable of capturing images of the slides. Gautier entrusted her slides to Lejeune, a fellow researcher at CNRS, who offered to take pictures in another laboratory better equipped for this task. [12] In August 1958 the photographs identified the supernumerary chromosome in Down syndrome patients. [13]

The laboratory notebook begun by Lejeune on 10 July 1957 indicates that on 22 May 1958 he succeeded in showing, for the first time, the presence of 47 chromosomes in a child with Down syndrome. This was two years after Tjio and Levan had proven that the human species has 46 chromosomes. On 13 June 1958, Lejeune identified an additional case, and a photo of the karyotype met with skeptical interest at the International Congress of Genetics in Montreal. The international community did not grasp the full impact of his discovery until 26 January 1959, when the French Academy of Sciences published the team's first paper presenting three case studies of children with Down syndrome. [6]

In January 1959, by studying new cases [13] and to forestall similar research by the English, [10] the Trousseau laboratory announced the results of the analysis of the slides in the Proceedings of the Academy of Sciences through a paper published with Lejeune as first author, Gautier second (her surname misspelled as Gauthier) and Turpin last author. [14]

On 16 March 1959, another presentation to the Academy of Sciences confirmed the team's initial publication, this time covering nine cases. In April 1959, the English team of Brown and Jacobs corroborated these results, citing the initial January 1959 publication by Lejeune, Gautier, and Turpin. “Mongolism” had become trisomy 21. The discovery opened up a new field of investigation for modern genetics and laid the foundation for a new discipline: cytogenetics.

Gautier has criticized the portrayal of Lejeune as the sole discoverer of trisomy 21. [15] She has stated in interviews and in a 2009 article in the journal Médecine/Sciences that she worked without assistance from Lejeune to develop the necessary cytological and histological resources and techniques, and used these to prepare microscope slides showing the trisomy. By her account, Lejeune took her slides away under the pretence of having them photographed for her, but instead presented them as his own work at a conference and in a subsequent publication. [15] [16] [17] Jean-Marie Le Méné, president of the Jérôme Lejeune Foundation, maintains that there is no evidence that Gautier made the key discovery. [18] Gautier does not dispute that Lejeune identified the 47th chromosome as an extra copy of chromosome 21, but maintains that she was the first the notice the abnormal count. [19] In a personal letter from 5 November 1958 to Gautier, Lejeune wrote appreciatively about 'your preparations' that were instrumental to the discovery, [15] and Gautier appeared as co-author on two seminal papers: one on the discovery of trisomy 21 [6] and a second one about the cell culture techniques that Gautier had learned during a scholarship (1955–1956) at Harvard, Boston which made the discovery possible. [20]

Later research and recognition

Continuing his work in genetics, Lejeune described several other diseases related to chromosomal abnormalities. In 1963 he identified Cri du Chat syndrome, caused by a missing segment in the short arm of chromosome 5, and in 1966 he described 18q-Syndrome, which results from loss of the distal portion of the long arm of chromosome 18. Lejeune also discovered the Dr phenotype (a malformation syndrome in which a ring-shaped chromosome replaces chromosome 13), and he identified trisomies on chromosome 9 in 1970 and chromosome 8 in 1971.

In a 1963 presentation before the French Academy of Sciences, Lejeune showed that monosomy—the absence of a specific segment of the genome—could also result in a clinically recognizable disease. Several years later, a group of American scientists came to Paris to conduct an independent investigation of Lejeune's discovery, and in 1962 the President of the United States personally presented him with the Kennedy Prize. In 1964, the first chair of human genetics was created at the Paris School of Medicine, and Lejeune was named to fill it. The appointment was highly unusual: only a groundbreaking discovery allowed a candidate to be named a professor of medicine without successfully completing a competitive residency examination.

In 1969, Lejeune's work earned him the William Allan Award from the American Society of Human Genetics. As of 2013 he was the only Frenchman to have won it. [21]

Human Rights Advocacy

Although Lejeune's discoveries paved the way for new therapeutic research into how changes in gene copy number could cause disease, they also led to the development of prenatal diagnosis of chromosome abnormalities and thence to abortions of affected pregnancies. This was very distressing to Lejeune, a devout Catholic, and led him to begin his fight for the anti-abortion cause.

Lejeune opposed the authorization in 1967 for women to use contraception as well as the Peyret laws in 1970 to render legal the interruption of pregnancy in case of fetal abnormalities. He also opposed the Veil Law ("Loi Veil" 1975) authorizing voluntary interruption of pregnancy. [22] [23]

After receiving the Allan prize, Lejeune gave a talk to his colleagues which concluded by explicitly questioning the morality of abortion, an unpopular viewpoint in the profession. In a letter to his wife, Lejeune wrote "today, I lost my Nobel prize in Medicine." [24] [25]

In 1975, after one of his public appearances in Paris on the beginning of life, Lejeune met Wanda Półtawska, director of the Catholic Institute for the Family in Kraków. Later that year, Półtawska contacted Lejeune twice, asking him to speak at conferences on the beginning of life that she was organizing with one of her close friends, Monsignor Karol Wojtyla, then Cardinal-Archbishop of Krakow. On 16 October 1978 Wojtyla was elected Pope John Paul II.

Afterward, Lejeune regularly traveled to Rome to meet with the pope, to attend meetings of the Pontifical Academy of Sciences, and to participate in other church events, such as the 1987 Synod of Bishops. The pope wanted to name Lejeune as the president of a new pontifical academy that was dear to his heart: the Pontifical Academy for Life. [26] Lejeune painstakingly drafted its bylaws and the oath of the Servants of Life that each member of the academy must take.

Illness and death

Lejeune was diagnosed with lung cancer in November 1993. Lejeune served as president of the Academy for only a few weeks before his death in April 1994.

A few years later, during his visit to Paris for World Youth Day 1997, John Paul II visited Lejeune's grave in Châlo-Saint-Mars.

Veneration

Lejeune was named "Servant of God" by the Catholic Church upon the opening of his cause for canonization, which is being postulated by the Abbey of Saint Wandrille in France.

On 21 January 2021, Pope Francis declared Lejeune's heroic virtues, and Lejeune was named "Venerable". [5]

Honors, awards and credentials

Jérôme Lejeune received many distinctions during his lifetime. He was a member of:

Lejeune held honorary doctorates from:

His international positions included:

Consulting expert on human genetics (1962)

Committee member (1963)

Selected works

See also

Related Research Articles

<span class="mw-page-title-main">Chromosome</span> DNA molecule containing genetic material of a cell

A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most important of these proteins are the histones. Aided by chaperone proteins, the histones bind to and condense the DNA molecule to maintain its integrity. These eukaryotic chromosomes display a complex three-dimensional structure that has a significant role in transcriptional regulation.

<span class="mw-page-title-main">Down syndrome</span> Genetic disorder

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.

<span class="mw-page-title-main">Trisomy</span> Abnormal presence of three copies of a particular chromosome

A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy.

<span class="mw-page-title-main">Karyotype</span> Photographic display of total chromosome complement in a cell

A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities.

<span class="mw-page-title-main">Cytogenetics</span> Branch of genetics

Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology, that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH).

<span class="mw-page-title-main">Chromosomal translocation</span> Phenomenon that results in unusual rearrangement of chromosomes

In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously.

Irene Ayako Uchida, was a Canadian scientist and Down syndrome researcher.

The year 1958 in science and technology involved some significant events, listed below.

<span class="mw-page-title-main">Polysomy</span> Abnormal multiples of one or more chromosomes

Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. Most eukaryotic species are diploid, meaning they have two sets of chromosomes, whereas prokaryotes are haploid, containing a single chromosome in each cell. Aneuploids possess chromosome numbers that are not exact multiples of the haploid number and polysomy is a type of aneuploidy. A karyotype is the set of chromosomes in an organism and the suffix -somy is used to name aneuploid karyotypes. This is not to be confused with the suffix -ploidy, referring to the number of complete sets of chromosomes.

<span class="mw-page-title-main">Chromosome 13</span> Human chromosome

Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs and represents between 3.5 and 4% of the total DNA in cells.

A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome segments, each with a centromere, resulting in the loss of acentric fragments and the formation of dicentric fragments. The formation of dicentric chromosomes has been attributed to genetic processes, such as Robertsonian translocation and paracentric inversion. Dicentric chromosomes have important roles in the mitotic stability of chromosomes and the formation of pseudodicentric chromosomes. Their existence has been linked to certain natural phenomena such as irradiation and have been documented to underlie certain clinical syndromes, notably Kabuki syndrome. The formation of dicentric chromosomes and their implications on centromere function are studied in certain clinical cytogenetics laboratories.

A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing.

Patricia Ann Jacobs is a Scottish geneticist and is Honorary Professor of Human Genetics, Co-director of Research, Wessex Regional Genetics Laboratory, within the University of Southampton.

Rex Brinkworth MBE was the founder of the UK Down's Syndrome Association. He was a pioneer of early treatment for babies with Down syndrome through stimulation and diet. He collaborated on this with Jerome Lejeune, the French geneticist who discovered that Down syndrome is caused by an extra chromosome 21. He was also a campaigner for integrated mainstream education for children with Down syndrome, and against the use of term 'mongolism' to refer to the syndrome. By coincidence, later he and his wife themselves had a child with Down syndrome.

<span class="mw-page-title-main">Marthe Gautier</span> French physician (1925–2022)

Marthe Gautier was a French medical doctor and researcher, best known for her role in discovering the link of diseases to chromosome abnormalities.

<span class="mw-page-title-main">Raymond Turpin</span>

Raymond Alexander Turpin, born 5 November 1895 in Pontoise, died May 24, 1988, in Paris, was a French pediatrician and geneticist. In the late 1950s, his team discovered the chromosomal abnormality, trisomy 21, responsible for Down syndrome.

William Rees Brebner Robertson was an American zoologist and early cytogeneticist who discovered the chromosomal rearrangement named in his honour, Robertsonian translocation, the most common structural chromosomal abnormalities seen in humans that result in syndromes of multiple malformations, including trisomy 13 Patau syndrome and trisomy 21 Down syndrome.

<span class="mw-page-title-main">Trisomy X</span> Chromosome disorder in women

Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.

<span class="mw-page-title-main">Grant Robert Sutherland</span> Australian geneticist (born 1945)

Grant Robert Sutherland is a retired Australian human geneticist and cytogeneticist. He was the Director, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital for 27 years (1975-2002), then became the Foundation Research Fellow there until 2007. He is an Emeritus Professor in the Departments of Paediatrics and Genetics at the University of Adelaide.

References

  1. ↑ "VISIT OF THE JOSEPH P. KENNEDY, JR., FOUNDATION AWARDS RECIPIENTS, 4:14PM". John F. Kennedy Presidential Library and Museum JOHN F. KENNEDY PRESIDENTIAL LIBRARY AND MUSEUM. Retrieved 10 May 2019.
  2. ↑ "Liste des lauréats du Prix ARC Léopold Griffuel depuis sa création". 17 January 2008. Archived from the original on 17 January 2008. Retrieved 10 May 2019.
  3. ↑ "Jerome Lejeune". Jerome Lejeune Foundation USA.
  4. ↑ Hulten, Maj (11 April 1994). "Obituary: Professor Jerome Lejeune". The Independent. Retrieved 5 March 2014.
  5. 1 2 "French doctor who made Down discovery closer to sainthood". AP NEWS. 2021-01-21. Retrieved 2021-01-21.
  6. 1 2 3 Lejeune, Jérôme, Marthe Gauthier, and Raymond Turpin (1959). "Les chromosomes humains en culture de tissus [The human chromosomes in tissue culture]". Comptes Rendus Hebdomadaires des Séances de l'Académie des Sciences (248): 602–603.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  7. ↑ "The history of cytogenetics" S. Gilgenkrantz, E.M. Rivera, March 2003 p. 5
  8. ↑ Gautier, Marie; Harper, P. S. (2009). "Fiftieth anniversary of trisomy 21: returning to a discovery" (PDF). Human Genetics. 126 (2): 317–324. doi:10.1007/s00439-009-0690-1. S2CID   30299551.
  9. ↑ "Trisomie : une pionnière intimidée". Le Monde. February 2004. Retrieved 16 May 2014.
  10. 1 2 Gautier, Marthe; Harper, Peter S. (2009). "Fiftieth anniversary of trisomy 21: returning to a discovery". Human Genetics. 126 (2): 317–324. doi:10.1007/s00439-009-0690-1. ISSN   0340-6717. S2CID   30299551.
  11. ↑ "The history of cytogenetics Portraits of some pioneers" S. Gilgenkrantz & E.M. Rivera, 2003 in "Annales de génétique"
  12. ↑ Pain, Elisabeth (11 February 2014). "After More Than 50 Years, a Dispute Over Down Syndrome Discovery". Science Now. 343 (6172): 720. Bibcode:2014Sci...343..720P.
  13. 1 2 Le Méné, Jean-Marie (2009). "La découverte de la trisomie 21" . Retrieved 9 February 2014.
  14. ↑ Lejeune, Jérôme; Gauthier, Marthe; Turpin, Raymond (1959). "Les chromosomes humains en culture de tissus". Comptes Rendus Hebdomadaires des Séances de l'Académie des Sciences. 248 (1): 602–603.
  15. 1 2 3 Gautier, Marthe and Peter S. Harper (2009). "Fiftieth anniversary of trisomy 21: returning to a discovery" (PDF). Human Genetics. 126 (2): 317–324. doi:10.1007/s00439-009-0690-1. S2CID   30299551.
  16. ↑ "Trisomie : une pionnière intimidée". Le Monde. 2014-02-03. Retrieved 16 May 2014.
  17. ↑ "La vieille dame et les huissiers de la Fondation Lejeune". Le Monde. February 2014. Retrieved 16 May 2014.
  18. ↑ Casassus, Barbara (2014). "Down's syndrome discovery dispute resurfaces in France. Debate flares over who discovered extra chromosome that causes the disease". Nature News. Feb 11, 2014. doi: 10.1038/nature.2014.14690 . S2CID   75454283.
  19. ↑ Pain, Elisabeth (2014). "After More Than 50 Years, a Dispute Over Down Syndrome Discovery". Science. 343 (6172): 720–721. Bibcode:2014Sci...343..720P. doi:10.1126/science.343.6172.720. PMID   24531949.
  20. ↑ Lejeune, Jerome; Turpin, Raymond; Gautier, Marthe (1960). "Étude des chromosomes somatiques. Technique pour la culture de fibroblastes in vitro" [Study of somatic chromosomes. Technique to culture fibroblasts in vitro]. Revue Française d'Études Cliniques et Biologiques. 5: 406–408.
  21. ↑ "Past ASHG Award recipients". Archived from the original on 3 October 2014. Retrieved 10 February 2014.
  22. ↑ "Chronologie – Contraception et IVG, 25 ans après la loi Veil – Dossiers – La Documentation française" (in French). Ladocumentationfrancaise.fr. Retrieved 3 March 2014.
  23. ↑ Gilgenkrantz, S; Rivera, E.M (2003). "The history of cytogenetics Portraits of some pioneers" (PDF). Annales de Génétique. 46 (4): 433–442. doi:10.1016/S0003-3995(03)00012-1. PMID   14659778 . Retrieved 3 March 2014.
  24. ↑ Benderly, Beryl Lieff. "UPDATED: A scientist saint?". Science. American Association for the Advancement of Science. Retrieved 10 May 2019.
  25. ↑ Smith, Peter Jesserer (30 March 2014). "Jerome Lejeune, Walking in the Footsteps of St. Thomas More". National Catholic Register. EWTN. Retrieved 10 May 2019.
  26. ↑ "French Pro-Life Geneticist Jerome Lejeune to be Considered for Catholic Beatification". Cardinalrating.com. Archived from the original on 2014-02-22. Retrieved 3 March 2014.
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