Julia Bell
Encyclopedia
Julia Bell was a pioneering English
human
geneticist
. She attended Girton College in Cambridge and took the Mathematical Tripos exam in 1901. 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
. In 1908, she moved to University College London
and obtained a position there as an assistant in statistics
.
Her mentor
was Karl Pearson
(1857–1936), one of the founders of modern statistics
, who prompted her to change to medicine
in 1914. 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.
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. 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."
In 1937 Julia Bell published a landmark article with J. B. S. Haldane
which reported a linkage
between the gene
s for colourblindness and haemophilia
on the X chromosome
. This discovery was a key step toward the mapping of the human genome.
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.
Besides the Martin–Bell syndrome, now known as the fragile X syndrome
, Julia Bell's name is associated with five forms of brachydactyly
.
England
England is a country that is part of the United Kingdom. It shares land borders with Scotland to the north and Wales to the west; the Irish Sea is to the north west, the Celtic Sea to the south west, with the North Sea to the east and the English Channel to the south separating it from continental...
human
Human
Humans are the only living species in the Homo genus...
geneticist
Geneticist
A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a researcher or lecturer. Some geneticists perform experiments and analyze data to interpret the inheritance of skills. A geneticist is also a Consultant or...
. She attended Girton College in Cambridge and took the Mathematical Tripos exam in 1901. But because women could not officially receive degrees from Oxford or Cambridge, she was awarded a master's degree at Trinity College
Trinity College, Dublin
Trinity College, Dublin , formally known as the College of the Holy and Undivided Trinity of Queen Elizabeth near Dublin, was founded in 1592 by letters patent from Queen Elizabeth I as the "mother of a university", Extracts from Letters Patent of Elizabeth I, 1592: "...we...found and...
, Dublin for her work investigating solar parallax at Cambridge Observatory
Cambridge Observatory
Cambridge Observatory is an astronomical observatory at the University of Cambridge in the East of England. It was first established in 1823 and is now part of the site of the Institute of Astronomy...
. In 1908, she moved to University College London
University College London
University College London is a public research university located in London, United Kingdom and the oldest and largest constituent college of the federal University of London...
and obtained a position there as an assistant in statistics
Statistics
Statistics is the study of the collection, organization, analysis, and interpretation of data. It deals with all aspects of this, including the planning of data collection in terms of the design of surveys and experiments....
.
Her mentor
Mentor
In Greek mythology, Mentor was the son of Alcimus or Anchialus. In his old age Mentor was a friend of Odysseus who placed Mentor and Odysseus' foster-brother Eumaeus in charge of his son Telemachus, and of Odysseus' palace, when Odysseus left for the Trojan War.When Athena visited Telemachus she...
was Karl Pearson
Karl Pearson
Karl Pearson FRS was an influential English mathematician who has been credited for establishing the disciplineof mathematical statistics....
(1857–1936), one of the founders of modern statistics
Statistics
Statistics is the study of the collection, organization, analysis, and interpretation of data. It deals with all aspects of this, including the planning of data collection in terms of the design of surveys and experiments....
, who prompted her to change to medicine
Medicine
Medicine is the science and art of healing. It encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness....
in 1914. She studied at the London School of Medicine for Women
London School of Medicine for Women
The London School of Medicine for Women was established in 1874 and was the first medical school in Britain to train women.The school was formed by an association of pioneering women physicians Sophia Jex-Blake, Elizabeth Garrett Anderson, Emily Blackwell and Elizabeth Blackwell with Thomas Henry...
(Royal Free Hospital
Royal Free Hospital
The Royal Free Hospital is a major teaching hospital in Hampstead, London, England and part of the Royal Free Hampstead NHS Trust....
). She qualified in 1922 and was elected a Fellow of the Royal College of Physicians
Royal College of Physicians
The Royal College of Physicians of London was founded in 1518 as the College of Physicians by royal charter of King Henry VIII in 1518 - the first medical institution in England to receive a royal charter...
in 1938.
Working as a member of the permanent
Permanent
The permanent of a square matrix in linear algebra, is a function of the matrix similar to the determinant. The permanent, as well as the determinant, is a polynomial in the entries of the matrix...
staff of the Medical Research Council
Medical Research Council (UK)
The Medical Research Council is a publicly-funded agency responsible for co-ordinating and funding medical research in the United Kingdom. It is one of seven Research Councils in the UK and is answerable to, although politically independent from, the Department for Business, Innovation and Skills...
at the Galton Laboratory
Galton Laboratory
The Galton Laboratory, was a laboratory for research into human genetics based at University College London in London, United Kingdom. It was originally established in 1904, and became part of UCL's biology department in 1996....
, 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. 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."
In 1937 Julia Bell published a landmark article with J. B. S. Haldane
J. B. S. Haldane
John Burdon Sanderson Haldane FRS , known as Jack , was a British-born geneticist and evolutionary biologist. A staunch Marxist, he was critical of Britain's role in the Suez Crisis, and chose to leave Oxford and moved to India and became an Indian citizen...
which reported a linkage
Genetic linkage
Genetic linkage is the tendency of certain loci or alleles to be inherited together. Genetic loci that are physically close to one another on the same chromosome tend to stay together during meiosis, and are thus genetically linked.-Background:...
between the gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s for colourblindness and haemophilia
Haemophilia
Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Haemophilia A is the most common form of the disorder, present in about 1 in 5,000–10,000 male births...
on the X chromosome
X chromosome
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system...
. This discovery was a key step toward the mapping of the human genome.
Julia Bell kept working actively for many years. At age 82 she wrote an original article on rubella
Rubella
Rubella, commonly known as German measles, is a disease caused by the rubella virus. The name "rubella" is derived from the Latin, meaning little red. Rubella is also known as German measles because the disease was first described by German physicians in the mid-eighteenth century. This disease is...
and pregnancy
Pregnancy
Pregnancy refers to the fertilization and development of one or more offspring, known as a fetus or embryo, in a woman's uterus. In a pregnancy, there can be multiple gestations, as in the case of twins or triplets...
; she retired at age 86; she kept in touch with genetics until her death at the age of 100.
Besides the Martin–Bell syndrome, now known as the fragile X syndrome
Fragile X syndrome
Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
, Julia Bell's name is associated with five forms of brachydactyly
Brachydactyly
Brachydactyly , is a medical term which literally means "shortness of the fingers and toes" . The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait...
.