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National Association for Down Syndrome (1960–)

The National Association for Down Syndrome, or NADS, is an organization that was founded in 1960 by Kathryn McGee in Chicago, Illinois, to support people with Down syndrome and their families in improving their quality of life. Originally named the Mongoloid Developmental Council, NADS is one of the oldest organizations serving people with Down syndrome and their families in the United States. According to NADS, Down syndrome is a genetic condition that occurs in one in every seven hundred ninety-two people and that causes delays in physical and intellectual development.

Format: Articles

Subject: Disorders, Organizations, People, Ethics

Ian Donald (1910–1987)

Ian Donald was an obstetrician who developed the technology and therapy of ultrasound diagnostics during the twentieth century in Europe. Ultrasound is a medical diagnostic technique that uses sound waves to produce images of the inside of the body. During the early 1900s, physicians had no way to see inside a woman’s uterus during pregnancy. Donald developed the first method of scanning human internal anatomy in real time, which enabled doctors to diagnose potentially fatal tumors and cysts.

Format: Articles

Subject: People

Jérôme Lejeune (1926−1994)

Jérôme Lejeune was a French physician and researcher who studied genetics and developmental disorders. According to the Jérôme Lejeune Foundation, in 1958, Lejeune discovered that the existence of an extra twenty-first chromosome, a condition called Trisomy 21, causes Down Syndrome. Down Syndrome is a condition present in an individual since birth and is characterized by physical and developmental anomalies such as small ears, a short neck, heart defects, and short height as children and adults.

Format: Articles

Subject: People

Dennis Lo (1963- )

Dennis Lo, also called Yuk Ming Dennis Lo, is a
professor at the Chinese University of Hong Kong in Hong Kong,
China. In 1997, Lo discovered fetal DNA in maternal
plasma, which is the liquid component of a pregnant woman's
blood. By 2002, Lo distinguished the DNA differences between pregnant women
and their fetuses, enabling scientists to identify fetal DNA in pregnant
women's blood. Lo used his discoveries to develop several
non-invasive and prenatal genetic tests, including tests for blood

Format: Articles

Subject: People, Reproduction

Julia Bell (1879-1979)

Julia Bell worked in twentieth-century Britain, discovered Fragile X Syndrome, and helped find heritable elements of other developmental and genetic disorders. Bell also wrote much of the five volume Treasury of Human Inheritance, a collection about genetics and genetic disorders. Bell researched until late in life, authoring an original research article on the effects of the rubella virus of fetal development (Congenital Rubella Syndrome) at the age of 80.

Format: Articles

Subject: People

Katharina Dorothea Dalton (1916–2004)

Katharina Dorothea Dalton was a physician in England in the twentieth century who defined premenstrual syndrome (PMS) as a cluster of symptoms suspected to begin one to two weeks before menstruation and disappear upon the onset of a new menstrual cycle. Prior to Dalton, there was little research on pre-menstrual issues and those that existed linked the problem to excessive water retention or estrogen. Dalton hypothesized that PMS resulted from a deficiency in the hormone progesterone and advocated for hormone replacement therapy to lessen the symptoms of the syndrome.

Format: Articles

Subject: People

Sir Graham Collingwood Liggins (1926-2010)

Sir Graham Collingwood Liggins devoted much of his professional life to obstetric research. Liggins demonstrated that hormones created by the fetus helped initiate labor, rather than hormones originating solely from the mother. Liggins also discovered that cortisol given to pregnant mothers helped delay premature labor, and that it increased the likelihood that premature infants would breathe normally after birth. Prior to cortisol treatment, premature infants often died of respiratory distress syndrome characterized by the inability to inflate immature lungs.

Format: Articles

Subject: People, Reproduction

Hans Asperger (1906-1980)

Hans Asperger studied mental abnormalities in children in
Vienna, Austria, in the early twentieth century. Asperger was one of
the early researchers who studied the syndrome that was later named
after him, Asperger's Syndrome. Asperger described the syndrome in
his 1944 publication Die Autistischen Psychopathen im
Kindesalter (Autistic Psychopathy in Childhood). At that time,
the syndrome was called autistic psychopathy, and Asperger noted
that characteristics of the syndrome included lack of sympathy,

Format: Articles

Subject: People

Leo Kanner (1894-1981)

Leo Kanner studied and described early infantile autism in humans in the US during the twentieth century. Though Eugen Bleuler first coined the term autism in 1910 as a symptom of schizophrenia, Kanner helped define autism as a disease concept separate from schizophrenia. He helped found an early child psychiatry department in 1930 at the Johns Hopkins University Hospital in Baltimore, Maryland.

Format: Articles

Subject: People

Leonard Hayflick (1928- )

Leonard Hayflick studied the processes by which cells age during the twentieth and twenty-first centuries in the United States. In 1961 at the Wistar Institute in the US, Hayflick researched a phenomenon later called the Hayflick Limit, or the claim that normal human cells can only divide forty to sixty times before they cannot divide any further. Researchers later found that the cause of the Hayflick Limit is the shortening of telomeres, or portions of DNA at the ends of chromosomes that slowly degrade as cells replicate.

Format: Articles

Subject: People

Michael R. Harrison (1943– )

Michael R. Harrison worked as a pediatric surgeon in the US throughout the late-twentieth century and performed many fetal surgeries, including one of the first successful surgeries on a fetus in utero, or while it is still in its gestational carrier’s body, also called open fetal surgery. A fetus is an organism developing inside of the uterus that is anywhere from eight weeks old to birth. Harrison hypothesized that open fetal surgery could correct developmental defects that may become fatal to the fetus at birth.

Format: Articles

Subject: People

Norbert Freinkel (1926–1989)

During the twentieth century, Norbert Freinkel studied hormones and diabetes in the US. Freinkel conducted many experiments that enabled him to determine the factors that influence hormones of the thyroid gland to bind to proteins and to determine the effects that those thyroid hormones have on surrounding tissues. Furthermore, Freinkel researched gestational diabetes, which is diabetes that occurs for the first time during a women’s pregnancy. That type of diabetes is caused by a change in the way a woman’s body responds to insulin, a hormone made in the body.

Format: Articles

Subject: People

Annie Dodge Wauneka (1910-1997)

Annie Dodge Wauneka, a member of the Navajo Tribal Council in Window Rock, Arizona, from 1951 to 1978, advocated for improved lifestyle, disease prevention, and access to medical knowledge in the Navajo Indian Reservation, later renamed the Navajo Nation. Wauneka served as chair of the Health and Welfare Committee of the Navajo Tribal Council and as a member of the US Surgeon General’s Advisory Committee on Indian Health. Wauneka advocated for initiatives aimed at promoting education, preventing tuberculosis, and reducing the infant mortality rate.

Format: Articles

Subject: People

Arthur Earl Walker (1907-1995)

Arthur Earl Walker was a medical researcher and physician who studied the brain and neurosurgery in the United States during the twentieth century. Walker examined the connections of the thalamus to the rest of the brain and how the thalamus coordinates sensory signals. The thalamus is a cluster of nerve cells located between the two hemispheres of the brain and it is responsible for consciousness and sensory interpretation.

Format: Articles

Subject: People

Walter Edward Dandy (1886-1946)

Walter Edward Dandy studied abnormalities in the developing human brain in the United States in the twentieth century. He collaborated with pediatrician Kenneth Blackfan to provide the first clinical description of Dandy-Walker Syndrome, a congenital brain malformation in which the medial part of the brain, called the cerebellar vermis, is absent. Dandy also described the circulation of cerebral spinal fluid, the clear, watery fluid that surrounds and cushions the brain and spinal cord.

Format: Articles

Subject: People

David Baltimore (1938– )

David Baltimore studied viruses and the immune system in the US during the twentieth century. In 1975, Baltimore was awarded the Nobel Prize in Physiology or Medicine for discovering reverse transcriptase, the enzyme used to transfer information from RNA to DNA. The discovery of reverse transcriptase contradicted the central dogma of biology at the time, which stated that the transfer of information was unidirectional from DNA, RNA, to protein.

Format: Articles

Subject: People

John Langdon Down (1828–1896)

John Langdon Down studied medicine in England in the nineteenth century and was one of the first people to develop a complete description of the disorder that would later be known as Trisomy 21, or Down Syndrome. Down Syndrome is a condition caused by the presence of an extra chromosome, which may cause a person to be born with certain impaired learning abilities and physical features such as a short neck, flattened face, and almond-shaped eyes.

Format: Articles

Subject: People

Irving Freiler Stein Sr. (1887–1976)

Irving Freiler Stein Sr. was a physician who studied women’s reproductive health during the twentieth century in the United States. In partnership with his colleague, Michael Leventhal, Stein identified a women’s reproductive disorder related to elevated male sex hormones, or androgens. The syndrome was originally called Stein-Leventhal syndrome and later known as polycystic ovarian syndrome. While studying the syndrome, Stein also helped establish a treatment for the condition, through the surgical removal of ovarian tissues.

Format: Articles

Subject: People

Stanley Alan Plotkin (1932– )

Stanley Alan Plotkin developed vaccines in the United States during the mid to late twentieth century. Plotkin began his research career at the Wistar Institute in Philadelphia, Pennsylvania, where he studied the rubella virus. In pregnant women, the rubella virus caused congenital rubella syndrome in the fetus, which led to various malformations and birth defects. Using WI-38 cells, a line of cells that originated from tissues of aborted fetuses, Plotkin successfully created RA27/3, a weakened strain of the rubella virus, which he then used to develop a rubella vaccine.

Format: Articles

Subject: People

"The Development of the Pronephros during the Embryonic and Early Larval Life of the Catfish (Ictalurus punctatus)" (1932), by Rachel L. Carson

Rachel L. Carson studied biology at Johns Hopkins University in Maryland and graduated in 1933 with an MA upon the completion of her thesis, The Development of the Pronephros during the Embryonic and Early Larval Life of the Catfish (Ictalurus punctatus). The research that Carson conducted for this thesis project grounded many of the claims and observations she presented in her 1962 book, Silent Spring.

Format: Articles

Subject: People, Experiments, Publications

Maurice Ralph Hilleman (1919–2005)

Maurice Ralph Hilleman developed vaccines at the Merck Institute of Therapeutic Research in West Point, Pennsylvania, during the twentieth century. Over the course of his career at Merck, Hilleman created over forty vaccines, making him one of the most prolific developers of vaccine in the twentieth century. Of the fourteen vaccines commonly given to children in the US by 2015, Hilleman was responsible for eight of them. Hilleman's most widely used vaccine was his measles, mumps, and rubella (MMR) vaccine.

Format: Articles

Subject: People

Richard Doll (1912–2005)

Richard Doll was an epidemiologist and public figure in the twentieth and early twenty-first centuries. Working primarily at the University of Oxford, in Oxford, England, Doll established a definitive correlation between cigarette smoking and lung cancer. Furthermore, Doll’s work helped legitimize epidemiology as a scientific discipline. Doll’s research also helped establish modern guidelines for oncological studies, as well as for contemporary and future research on the effect of smoking on pregnancy and fetal development.

Format: Articles

Subject: People

Albert William Liley (1929–1983)

Albert William Liley advanced the science of fetal physiology and the techniques of life-saving in utero blood transfusions for fetuses with Rh incompatibility, also known as hemolytic disease. Due to his advances, fetuses too young to survive premature delivery, and likely to die in utero if their Rh incompabilities were left untreated, were successfully transfused and carried to term. Liley was as passionate as a clinician and researcher as he was about his views on the rights of the unborn.

Format: Articles

Subject: People, Reproduction

Franz Max Albert Kramer (1878–1967)

Scientist Franz Max Albert Kramer worked as a psychiatrist in Poland and the Netherlands in the early twentieth century and is known for his contributions to research on psychological conditions that experts call hyperkinetic syndromes. Children with hyperkinetic syndromes display inattention, overactivity, and impulsivity. Along with scientist Hans Pollnow, Kramer defined a specific kind of hyperkinetic syndrome based on an initial case study of seventeen children, initially known as Kramer-Pollnow Syndrome.

Format: Articles

Subject: People

Thesis: Leo Kanner and the Psychobiology of Autism

This thesis illustrates that Kanner held an explicitly descriptive frame of reference toward his eleven child patients, their parents, and autism. Adolf Meyer, his mentor at Johns Hopkins, trained him to make detailed life-charts under a clinical framework called psychobiology. By understanding that Kanner was a psychobiologist by training, I revisit the original definition of autism as a category of mental disorder and restate its terms.

Format: Essays and Theses

Subject: People, Disorders

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