Julia Bell

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Julia Bell
Born(1879-01-28)28 January 1879
Died26 April 1979(1979-04-26) (aged 100)
NationalityBritish
Alma mater London School of Medicine for Women
Awards Weldon Memorial Prize (1941)
Scientific career
Fields Genetics
Institutions University College London
Influences Karl Pearson

Julia Bell (28 January 1879 – 26 April 1979) was a pioneering English human geneticist. [1]

England Country in north-west Europe, part of the United Kingdom

England is a country that is part of the United Kingdom. It shares land borders with Wales to the west and Scotland to the north-northwest. The Irish Sea lies west of England and the Celtic Sea lies to the southwest. England is separated from continental Europe by the North Sea to the east and the English Channel to the south. The country covers five-eighths of the island of Great Britain, which lies in the North Atlantic, and includes over 100 smaller islands, such as the Isles of Scilly and the Isle of Wight.

Human Species of hominid

Humans are the only extant members of the subtribe Hominina. Together with chimpanzees, gorillas, and orangutans, they are part of the family Hominidae. A terrestrial animal, humans are characterized by their erect posture and bipedal locomotion; high manual dexterity and heavy tool use compared to other animals; open-ended and complex language use compared to other animal communications; larger, more complex brains than other animals; and highly advanced and organized societies.

Geneticist biologist who studies genetics

A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms.

Biography

She attended Girton College in Cambridge and took the Mathematical Tripos exam in 1901. [2] But because women could not officially receive degrees from Oxford or Cambridge, she was awarded a master's degree at Trinity College, Dublin for her work investigating solar parallax at Cambridge Observatory. [3] In 1908, she moved to University College London and obtained a position there as an assistant in statistics.

Dublin capital and largest city in Ireland

Dublin is the capital and largest city of Ireland. It is on the east coast of Ireland, in the province of Leinster, at the mouth of the River Liffey, and is bordered on the south by the Wicklow Mountains. It has an urban area population of 1,173,179, while the population of the Dublin Region, as of 2016, was 1,347,359, and the population of the Greater Dublin area was 1,904,806.

Cambridge Observatory

Cambridge Observatory is an astronomical observatory at the University of Cambridge in the East of England. It was established in 1823 and is now part of the site of the Institute of Astronomy. The old Observatory building houses the Institute of Astronomy Library which has a collection of modern and historical astronomical books.

University College London, which has operated under the official name of UCL since 2005, is a public research university located in London, United Kingdom. It is a constituent college of the federal University of London, and is the third largest university in the United Kingdom by total enrolment, and the largest by postgraduate enrolment.

Her mentor was Karl Pearson (1857–1936), [4] one of the founders of modern statistics, who in 1914 asked her to augment the expertise of the Galton Laboratory staff by taking a degree in medicine.[ citation needed ] She studied at the London School of Medicine for Women (Royal Free Hospital). She qualified in 1922 and was elected a Fellow of the Royal College of Physicians in 1938.

Karl Pearson English mathematician and biometrician

Karl Pearson HFRSE LLD was an English mathematician and biostatistician. He has been credited with establishing the discipline of mathematical statistics. He founded the world's first university statistics department at University College London in 1911, and contributed significantly to the field of biometrics and meteorology. Pearson was also a proponent of social Darwinism and eugenics. Pearson was a protégé and biographer of Sir Francis Galton.

Statistics study of the collection, organization, analysis, interpretation, and presentation of data

Statistics is a branch of mathematics dealing with data collection, organization, analysis, interpretation and presentation. In applying statistics to, for example, a scientific, industrial, or social problem, it is conventional to begin with a statistical population or a statistical model process to be studied. Populations can be diverse topics such as "all people living in a country" or "every atom composing a crystal". Statistics deals with every aspect of data, including the planning of data collection in terms of the design of surveys and experiments. See glossary of probability and statistics.

Working as a member of the permanent staff of the Medical Research Council at the Galton Laboratory, University College, Julia Bell did pioneering work in documenting the familial nature of many diseases. She wrote most of the sections in a unique series known as The Treasury of Human Inheritance published between 1909 and 1956, from The Galton Lab. Bell's "combination of mathematical training, genetic knowledge and clinical expertise yielded numerous important insights into human inheritance first appearing in the Treasury," Harper noted. [5] Julia Bell's Treasury of Human Inheritance "remains a valuable scientific as well as an historical record of the genetics of a range of important inherited disorders."

The Galton Laboratory was a laboratory for research into eugenics and then into human genetics based at University College London in London, England. It was originally established in 1904, and became part of UCL's biology department in 1996.

In 1937 Julia Bell published a landmark article with J. B. S. Haldane which reported a linkage between the genes for colourblindness and haemophilia on the X chromosome. [6] This discovery was a key step toward the mapping of the human genome.

J. B. S. Haldane British geneticist and evolutionary biologist

John Burdon Sanderson Haldane was a British-Indian scientist known for his work in the study of physiology, genetics, evolutionary biology, and mathematics. He made innovative contributions to the fields of statistics and biostatistics.

Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be more linked than markers that are far apart. In other words, the nearer two genes are on a chromosome, the lower the chance of recombination between them, and the more likely they are to be inherited together. Markers on different chromosomes are perfectly unlinked.

Haemophilia Human genetic disease that impairs the bodys ability to make blood clots, a process needed to stop bleeding

Haemophilia is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding longer after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain. Those with a mild case of the disease may have symptoms only after an accident or during surgery. Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches, seizures, or a decreased level of consciousness.

Julia Bell kept working actively for many years. At age 82 she wrote an original article on rubella and pregnancy; she retired at age 86; she kept in touch with genetics until her death at the age of 100.

Rubella human viral disease

Rubella, also known as German measles or three-day measles, is an infection caused by the rubella virus. This disease is often mild with half of people not realizing that they are infected. A rash may start around two weeks after exposure and last for three days. It usually starts on the face and spreads to the rest of the body. The rash is sometimes itchy and is not as bright as that of measles. Swollen lymph nodes are common and may last a few weeks. A fever, sore throat, and fatigue may also occur. In adults joint pain is common. Complications may include bleeding problems, testicular swelling, and inflammation of nerves. Infection during early pregnancy may result in a child born with congenital rubella syndrome (CRS) or miscarriage. Symptoms of CRS include problems with the eyes such as cataracts, ears such as deafness, heart, and brain. Problems are rare after the 20th week of pregnancy.

Pregnancy time when children develop inside the mothers body before birth

Pregnancy, also known as gestation, is the time during which one or more offspring develops inside a woman. A multiple pregnancy involves more than one offspring, such as with twins. Pregnancy can occur by sexual intercourse or assisted reproductive technology. Childbirth typically occurs around 40 weeks from the last menstrual period (LMP). This is just over nine months, where each month averages 31 days. When measured from fertilization it is about 38 weeks. An embryo is the developing offspring during the first eight weeks following fertilization, after which, the term fetus is used until birth. Symptoms of early pregnancy may include missed periods, tender breasts, nausea and vomiting, hunger, and frequent urination. Pregnancy may be confirmed with a pregnancy test.

Besides the Martin–Bell syndrome, [7] now known as the fragile X syndrome, Julia Bell's name is associated with five forms of brachydactyly.

Related Research Articles

Francis Galton English polymath: geographer, statistician, pioneer in eugenics

Sir Francis Galton, FRS was an English Victorian era statistician, progressive, polymath, sociologist, psychologist, anthropologist, eugenicist, tropical explorer, geographer, inventor, meteorologist, proto-geneticist, and psychometrician. He was knighted in 1909.

<i>The Genetical Theory of Natural Selection</i> book by Ronald Aylmer Fisher

The Genetical Theory of Natural Selection is a book by Ronald Fisher which combines Mendelian genetics with Charles Darwin's theory of natural selection, with Fisher being the first to argue that "Mendelism therefore validates Darwinism" and stating with regard to mutations that "The vast majority of large mutations are deleterious; small mutations are both far more frequent and more likely to be useful", thus refuting orthogenesis. First published in 1930 by The Clarendon Press, it is one of the most important books of the modern synthesis, and helped define population genetics. It is commonly cited in biology books, outlining many concepts that are still considered important such as Fisherian runaway, Fisher's principle, reproductive value, Fisher's fundamental theorem of natural selection, Fisher's geometric model, the sexy son hypothesis, mimicry and the evolution of dominance. It was dictated to his wife in the evenings as he worked at Rothamsted Research in the day.

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Sex linkage

Sex linkage describes the patterns of inheritance and presentation when a mutated gene is present on a sex chromosome rather than a non-sex chromosome. They are characteristically different from the autosomal forms of dominance and recessiveness.

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Oligogenic inheritance describes a trait that is influenced by more than one gene. Oligogenic inheritance represents an intermediate between monogenic inheritance in which a trait is determined by a single causative gene, and polygenic inheritance, in which a trait is influenced by many genes and often environmental factors.

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References

  1. Greta Jones, 'Bell, Julia (1879–1979)', Oxford Dictionary of National Biography, Oxford University Press, Sept 2004; online edn, Jan 2008 accessed 10 May 2008
  2. Olgivy, Marilyn Bailey "The Biographical Dictionary of Women in Science: Pioneering Lives from Ancient Times to the Mid 20th Century" Routledge (2000)
  3. Stratton, F.J.M. "The History of the Cambridge Observatories" Annals of the Solar Physics Observatory, Cambridge Vol. I (1949)
  4. "Munks Roll Details for Julia Bell". munksroll.rcplondon.ac.uk.
  5. Julia Bell and the Treasury of Human Inheritance by Peter S. Harper.
  6. Bell, J.; Haldane, J. B. S. (1937). "The Linkage between the Genes for Colour-Blindness and Haemophilia in Man". Proceedings of the Royal Society B . 123 (831): 119–150. doi:10.1098/rspb.1937.0046.
  7. Martin, J. P. & Bell, J. (1943). "A pedigree of mental defect showing sex-linkage". J. Neurol. Psychiatry . 6 (3–4): 154–157. doi:10.1136/jnnp.6.3-4.154. PMC   1090429 . PMID   21611430.