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Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable secondary sex characteristics (phenotypes). A fetus with AIS is genetically male with a 46,XY genotype. The term 46,XY refers to the chromosomes found in most cells of the fetus. Most cells have a total of 46 autosomes, or non-sex chromosomes, and a pair sex chromosomes, XX for genetic females, or XY for genetic males.

Format: Articles

Subject: Disorders

Gregory Goodwin Pincus (1903-1967)

Gregory Goodwin Pincus, one of the original researchers responsible for the development of the first oral contraceptive pill, was born in Woodbine, New Jersey, on 19 April 1903 to Russian Jewish parents. In 1924 Pincus received his BS degree from Cornell University, and in 1927 he received his MS and PhD from Harvard University, having studied under William Ernest Castle and William John Crozier.

Format: Articles

Subject: People, Reproduction

"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

"The Developmental Capacity of Nuclei Taken from Intestinal Epithelium Cells of Feeding Tadpoles" (1962), by John B. Gurdon

In 1962 researcher John Bertrand Gurdon at the University of Oxford in Oxford, England, conducted a series of experiments on the developmental capacity of nuclei taken from intestinal epithelium cells of feeding tadpoles. In the experiments, Gurdon conducted nuclear transplantation, or cloning, of differentiated cells, or cells that have already specialized to become one cell type or another, in tadpoles. Gurdon's experiment showed that differentiated adult cells could be induced to an undifferentiated state, where they could once again become multiple cell types.

Format: Articles

Subject: Experiments

“Infant Survival After Cesarean Section for Trauma” (1996), by John A. Morris, Jr. et al.

In the May 1996 edition of The Annals of Surgery, John A. Morris and his collaborators published “Infant Survival After Cesarean Section for Trauma,” in which they evaluate the use of emergency cesarean sections for the treatment of pregnant trauma patients. During a cesarean section, a physician removes a fetus from a pregnant woman through an incision in her abdomen and uterus. When a pregnant woman experiences trauma, physicians can perform an emergency cesarean section to remove the fetus and administer medical treatments that would not be possible while the woman is pregnant.

Format: Articles

Subject: Publications

"Apoptosis: A Basic Biological Phenomenon with Wide-Ranging Implications in Tissue Kinetics" (1972), by John F. R. Kerr, Andrew H. Wyllie and Alastair R. Currie

"Apoptosis: A Basic Biological Phenomenon with Wide-Ranging Implications in Tissue Kinetics" (hereafter abbreviated as "Apoptosis") was published in the British Journal of Cancer in 1972 and co-authored by three pathologists who collaborated at the University of Aberdeen, Scotland. In this paper the authors propose the term apoptosis for regulated cell death that proceeds through active, controlled morphological changes. This is in contrast to necrosis, a passive mode of cell death that results from uncontrolled cellular reactions to injury or stress.

Format: Articles

Subject: Publications

My Father, My Son (1986), by Elmo Zumwalt, Jr., Elmo Zumwalt III, and John Pekkanen

My Father, My Son is a dual autobiography by father and son Elmo Russell Zumwalt Jr. and Elmo Russell Zumwalt III published by Macmillan Publishing Company in 1986, detailing their experiences during the Vietnam War and particularly with Agent Orange, an herbicide used for defoliation and crop destruction during the war. As a commander in the Navy, Zumwalt Jr. ordered the use of Agent Orange in South Vietnam, where Zumwalt III was stationed.

Format: Articles

Subject: Publications

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

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

Experiments on the Reproductive Costs of a Pure Capital Breeder, the Children’s Python (Antaresia childreni) (2013), by Olivier Lourdais, Sophie Lorioux, and Dale F. DeNardo

In 2013, Olivier Lourdais, Sophie Lorioux, and Dale DeNardo conducted a study on the impact of the reproductive effort on the muscle size and the constriction strength of female Children’s pythons. Children’s pythons are pure capital breeders, meaning that they do not eat during vitellogenesis, a process in which egg-laying or oviparous species allocate bodily resources including fat, water, and protein to follicles in the ovary that develop into eggs.

Format: Articles

Subject: Experiments

Catherine DeAngelis (1940– )

In the late-twentieth century in the United States, Catherine DeAngelis was a pediatric physician, researcher, and editor of multiple medical journals. During her time with the Journal of the American Medical Association, DeAngelis became the journal’s first female editor. At Johns Hopkins University in Baltimore, Maryland, she studied how physician-nurse interactions affected patient care, how immunizations and adolescent pregnancy affected children, and how medications affected men and women differently.

Format: Articles

Subject: People

Florence Rena Sabin (1871-1953)

Florence Rena Sabin had successful careers as both a researcher and public health reformer. When Johns Hopkins University Medical School opened, accepting women and men on the same basis, Sabin was one of the first to enter. After the successful completion of her MD degree, Sabin went on to become the first female faculty member and later full-time professor at Johns Hopkins.

Format: Articles

Subject: People

George Washington Corner (1889-1981)

As the third director of the Carnegie Institute of Washington s Department of Embryology, George Washington Corner made a number of contributions to the life sciences as well as to administration. Corner was born on 12 December 1889 in Baltimore, Maryland, near the newly established Johns Hopkins University. Although Corner was not exposed to science much in school at a young age, he developed an early appreciation for science through conversations with his father about geography and by looking through the family's National Geographic magazines.

Format: Articles

Subject: People

William Keith Brooks (1848-1908)

Biologist William Keith Brooks studied embryological development in invertebrates and used his results as evidence for theories of evolution and ancestral heredity. He founded a marine biological laboratory where his and others' embryological studies took place. Later in life, Brooks became head of the Biology Department at Johns Hopkins University where he helped shape the minds of leading embryologists.

Format: Articles

Subject: People

Trisomy 18 (Edwards Syndrome)

John Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs when cells have an extra copy of a chromosome, in humans - in 1960. Trisomy 18, also known as Edwards Syndrome, occurs approximately once per 6000 live births and is second in frequency only to Trisomy 21, or Down's Syndrome, as an autosomal trisomy. Trisomy 18 causes substantial developmental problems in utero.

Format: Articles

Subject: Disorders

Bernadine Healy (1944–2011)

During the twentieth century in the United States, Bernadine Patricia Healy was a cardiologist who served as the first female director of the National Institutes of Health or NIH and the president of both the American Heart Association and the American Red Cross. Healy conducted research on the different manifestations of heart attacks in women compared to men. At the time, many physicians underdiagnosed and mistreated coronary heart disease in women. Healy's research illustrated how coronary heart disease affected women.

Format: Articles

Subject: People

William Stewart Halsted (1852-1922)

William Stewart Halsted was a surgeon at Johns Hopkins Hospital in Baltimore, Maryland, during the late 1800s and early 1900s. In 1894 Halsted described his procedure for treating breast cancer by removing the breast tissue, chest muscles, and lymph nodes in the armpit, a procedure he named radical mastectomy, and that became the standard of care for treating breast cancer until 1970.

Format: Articles

Subject: People

"RNA-Guided Human Genome Engineering via Cas 9" (2013), by Prashant Mali, Luhan Yang, Kevin M. Esvelt, John Aach, Marc Guell, James E. DiCarlo, Julie E. Norville, and George M. Church

In 2013, George Church and his colleagues at Harvard University in Cambridge, Massachusetts published RNA-Guided Human Genome Engineering via Cas 9, in which they detailed their use of RNA-guided Cas 9 to genetically modify genes in human cells. Researchers use RNA-guided Cas 9 technology to modify the genetic information of organisms, DNA, by targeting specific sequences of DNA and subsequently replacing those targeted sequences with different DNA sequences. Church and his team used RNA-guided Cas 9 technology to edit the genetic information in human cells.

Format: Articles

Subject: Publications

Georgeanna Seegar Jones (1912-2005)

Georgeanna Seegar Jones was a reproductive endocrinologist who created one of America' s most successful infertility clinics in West Virginia and eventually, along with her husband Howard W. Jones MD, performed the first in vitro fertilization in America, leading to the birth of Elizabeth Jordan Carr. Jones was born in Baltimore, Maryland, on 6 July 1912. Her father, Dr. John King Beck Emory Seegar, was a practicing physician at the time working in the field of obstetrics.

Format: Articles

Subject: People, Reproduction

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

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

"The Environment and Disease: Association or Causation?" (1965), by Austin Bradford Hill

In 1965, Austin Bradford Hill published the article “The Environment and Disease: Association or Causation?” in the Proceedings of the Royal Society of Medicine. In the article, Hill describes nine criteria to determine if an environmental factor, especially a condition or hazard in a work environment, causes an illness. The article arose from an inaugural presidential address Hill gave at the 1965 meeting of the Section of Occupational Medicine of the Royal Society of Medicine in London, England.

Format: Articles

Subject: Publications

"Presence of Fetal DNA in Maternal Plasma and Serum" (1997), by Dennis Lo, et al.

In the late 1990s researchers Yuk Ming Dennis Lo and his colleagues isolated fetal DNA extracted from pregnant woman’s blood. The technique enabled for more efficient and less invasive diagnoses of genetic abnormalities in fetuses, such as having too many copies of chromosomes.

Format: Articles

Subject: Experiments

David Hunter Hubel (1926–2013)

David Hunter Hubel studied the development of the visual system and how the brain processes visual information in the US during the twentieth century. He performed multiple experiments with kittens in which he sewed kitten’s eyes shut for varying periods of time and monitored their vision after reopening them. Hubel, along with colleague Torsten Wiesel, received the 1981 Nobel Prize in Physiology or Medicine for that research.

Format: Articles

Subject: People

Noninvasive Fetal Aneuploidy Detection for Trisomy 21, 13, and 18

Noninvasive fetal aneuploidy detection technology allows for the detection of fetal genetic conditions, specifically having three chromosomes, a condition called aneuploidy, by analyzing a simple blood sample from the pregnant woman. Dennis Lo and Rossa Chiu researched methods of detection of aneuploidies in the early twenty-first century. Their research has been specifically applied to three trisomies, trisomy twenty-one known as Down syndrome, trisomy eighteen known as Edwards Syndrome, and trisomy thirteen known as Patau Syndrome.

Format: Articles

Subject: Technologies