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Jérôme Lejeune
Jérôme Jean Louis Marie Lejeune (13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for discovering 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, in his opinion, the improper and immoral use of amniocentesis prenatal 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 Lejeu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Venerable
The Venerable (''venerabilis'' in Latin) is a style, a title, or an epithet which is used in some Western Christian churches, or it is a translation of similar terms for clerics in Eastern Orthodoxy and monastics in Buddhism. Christianity Catholic In the Catholic Church, after a deceased Catholic has been declared a Servant of God by a bishop and proposed for beatification by the Pope, such a servant of God may next be declared venerable (" heroic in virtue") during the investigation and process leading to possible canonization as a saint. A declaration that a person is venerable is not a pronouncement of their presence in Heaven. The pronouncement means it is considered likely that they are in heaven, but it is possible the person could still be in purgatory. Before one is considered venerable, one must be declared by a proclamation, approved by the Pope, to have lived a life that was "heroic in virtue" (the theological virtues of faith, hope, and charity and the cardinal virt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Geneticist
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as ''Drosophila'', ''C. elegans'', zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis. Education Geneticists participate in courses from many are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marthe Gautier
Marthe Gautier (; 10 September 1925 – 30 April 2022) was a French medical doctor and researcher, best known for her role in discovering the link of diseases to chromosome abnormalities. Education Marthe Gautier discovered a vocation for pediatrics at an early age. In 1942 she joined her sister Paulette who was about to complete her medical studies in Paris intending to become a pediatrician. She passed the entrance exam of the "Internat des Assistance Publique–Hôpitaux de Paris, hôpitaux de Paris" and spent the next four years as an intern gaining clinical experience in pediatrics. In 1955 she submitted and defended her thesis in pediatric cardiology under the direction of Robert Debré. Her thesis focused on the study of clinical and anatomical pathology of fatal forms of rheumatic fever (rheumatic endocarditis) due to streptococcus infection. Robert Debré, in charge of pediatrics in France at the time, offered Gautier a scholarship for one year at Harvard University ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Raymond Turpin
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. Early years Turpin was admitted to the Faculty of Medicine of Paris in 1914, and in 1915 he was mobilized as a military medical assistant. Three years later, he was seriously affected by poison gas, and was subsequently awarded the Croix de Guerre. After the war, he resumed his medical studies, interning at Hôpitaux de Paris in 1921. As part of the Pasteur Institute, he participated, with Albert Calmette and Benjamin Weill-Hallé, in the first trials of the BCG vaccine, to prevent TB, and continued the collaboration until 1933. He also worked in pathology and pediatrics, including childhood tetany. In 1929, tetany was the topic of his medical thesis, for which he won the Thesis Prize of the Faculty of Medicine. In this work, he highlighted ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pope Francis
Pope Francis ( la, Franciscus; it, Francesco; es, link=, Francisco; born Jorge Mario Bergoglio, 17 December 1936) is the head of the Catholic Church. He has been the bishop of Rome and sovereign of the Vatican City State since 13 March 2013. Francis is the first pope to be a member of the Society of Jesus, the first from the Americas, the first from the Southern Hemisphere, and the first pope from outside Europe since Gregory III, a Syrian who reigned in the 8th century. Born in Buenos Aires, Argentina, Bergoglio worked for a time as a bouncer and a janitor as a young man before training to be a chemist and working as a technician in a food science laboratory. After recovering from a severe illness, he was inspired to join the Society of Jesus (Jesuits) in 1958. He was ordained a Catholic priest in 1969, and from 1973 to 1979 was the Jesuit provincial superior in Argentina. He became the archbishop of Buenos Aires in 1998 and was created a cardinal in 2001 by Pope John Pa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
The Venerable
The Venerable (''venerabilis'' in Latin) is a style, a title, or an epithet which is used in some Western Christian churches, or it is a translation of similar terms for clerics in Eastern Orthodoxy and monastics in Buddhism. Christianity Catholic In the Catholic Church, after a deceased Catholic has been declared a Servant of God by a bishop and proposed for beatification by the Pope, such a servant of God may next be declared venerable (" heroic in virtue") during the investigation and process leading to possible canonization as a saint. A declaration that a person is venerable is not a pronouncement of their presence in Heaven. The pronouncement means it is considered likely that they are in heaven, but it is possible the person could still be in purgatory. Before one is considered venerable, one must be declared by a proclamation, approved by the Pope, to have lived a life that was "heroic in virtue" (the theological virtues of faith, hope, and charity and the cardinal virt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Catholic Church
The Catholic Church, also known as the Roman Catholic Church, is the largest Christian church, with 1.3 billion baptized Catholics worldwide . It is among the world's oldest and largest international institutions, and has played a prominent role in the history and development of Western civilization.O'Collins, p. v (preface). The church consists of 24 ''sui iuris'' churches, including the Latin Church and 23 Eastern Catholic Churches, which comprise almost 3,500 dioceses and eparchies located around the world. The pope, who is the bishop of Rome, is the chief pastor of the church. The bishopric of Rome, known as the Holy See, is the central governing authority of the church. The administrative body of the Holy See, the Roman Curia, has its principal offices in Vatican City, a small enclave of the Italian city of Rome, of which the pope is head of state. The core beliefs of Catholicism are found in the Nicene Creed. The Catholic Church teaches that it is the on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abortion
Abortion is the termination of a pregnancy by removal or expulsion of an embryo or fetus. An abortion that occurs without intervention is known as a miscarriage or "spontaneous abortion"; these occur in approximately 30% to 40% of pregnancies. When deliberate steps are taken to end a pregnancy, it is called an induced abortion, or less frequently "induced miscarriage". The unmodified word ''abortion'' generally refers to an induced abortion. The reasons why women have abortions are diverse and vary across the world. Reasons include maternal health, an inability to afford a child, domestic violence, lack of support, feeling they are too young, wishing to complete education or advance a career, and not being able or willing to raise a child conceived as a result of rape or incest. When properly done, induced abortion is one of the safest procedures in medicine. In the United States, the risk of maternal mortality is 14 times lower after induced abortion than after chi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eugenic
Eugenics ( ; ) is a fringe set of beliefs and practices that aim to improve the genetic quality of a human population. Historically, eugenicists have attempted to alter human gene pools by excluding people and groups judged to be inferior or promoting those judged to be superior. In recent years, the term has seen a revival in bioethical discussions on the usage of new technologies such as CRISPR and genetic screening, with a heated debate on whether these technologies should be called eugenics or not. The concept predates the term; Plato suggested applying the principles of selective breeding to humans around 400 BC. Early advocates of eugenics in the 19th century regarded it as a way of improving groups of people. In contemporary usage, the term ''eugenics'' is closely associated with scientific racism. Modern bioethicists who advocate new eugenics characterize it as a way of enhancing individual traits, regardless of group membership. While eugenic principles have bee ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prenatal Testing
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencepha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amniocentesis
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation. In this procedure, a thin needle is inserted into the abdomen of the pregnant woman. The needle punctures the amnion, which is the membrane that surrounds the developing fetus. The fluid within the amnion is called amniotic fluid, and because this fluid surrounds the developing fetus, it contains fetal cells. The amniotic fluid is sampled and analyzed via methods such as karyotyping and DNA analysis technology for genetic abnormalities. An amniocentesis is typically performed in the second trimester between the 15th and 20th week of gestation. Women who choose to have this test are prima ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cri Du Chat Syndrome
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or " call of the cat") referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio. Signs and symptoms The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About one third of children lose the cry by age of 2 years. Other symptoms of cri du chat syndrome may include: * feeding problems because of difficulty in swallowing and sucking; * mutism; * low birth weight and poor growth; * severe cognitive, speech and motor disabilities; * behavioural problems such as hyperactivity, aggression, outbursts and repetitive movements; * unusual facial fe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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