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Angelman Syndrome

Angelman syndrome is a disorder in humans that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six-one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the paternal chromosome 15 is inactivated in some parts the brain. The result is the paternal gene is silenced during development of the sperm, which is called genetic imprinting.

Format: Articles

Subject: Disorders

Beatrice Mintz (1921- )

Beatrice Mintz is a brilliant researcher who has developed techniques essential for many aspects of research on mouse development. She produced the first successful mouse chimeras and meticulously characterized their traits. She has worked with various cancers and produced viable mice from the cells of a teratoma. Mintz participated in the development of transgenic mice by the incorporation of foreign DNA into a mouse genome.

Format: Articles

Subject: People

Making Visible Embryos (2008- ), by Tatjana Buklijaz and Nick Hopwood

Making Visible Embryos is a 2008 online exhibition of embryos authored and designed by Tatjana Buklijaz and Nick Hopwood who work in the Department of History and Philosophy of Science at the University of Cambridge. Hopwood's research on the history of Ziegler wax models and the use of visual aids to promote the teaching and learning of science is well known.

Format: Articles

Subject: Organizations, Outreach

Embryos in Wax (2002), by Nick Hopwood

Embryos in Wax: Models from the Ziegler Studio is a history of embryo wax modeling written by science historian Nick Hopwood. Published by the Whipple Museum of the History of Science University of Cambridge and the Institute of the History of Medicine University of Bern, 2002, the book, like the wax models, helps exemplify the visual and material culture of science.

Format: Articles

Subject: Publications

Gamete Intra-Fallopian Transfer (GIFT)

Various techniques constitute assisted reproduction, one of which is gamete intra-fallopian transfer (GIFT). The first example of GIFT involved primates during the 1970s; however, the technology was unsuccessful until 1984 when an effective GIFT method was invented by Ricardo Asch at the University of Texas Health Sciences Center and the procedure resulted in the first human pregnancy. The GIFT technique was created in hopes of generating an artificial insemination process that mimicked the physiological sequences of normal conception.

Format: Articles

Subject: Technologies, Reproduction

Hermaphrodites and the Medical Invention of Sex (1998), by Alice Domurat Dreger

Hermaphrodites and the Medical Invention of Sex, by historian of science Alice Domurat Dreger, was published in 1998 by Harvard University Press. In the book, Dreger describes how many doctors and scientists treated human hermaphrodites from the late nineteenth century to the early twentieth century. She states that during this time period, many physicians and scientists struggled to determine the nature sex, and to support a classification of sex as male or female, many physicians and scientists resorted to viewing a person's gonads for identification of his or her sex.

Format: Articles

Subject: Publications, Theories, Disorders

Walter Jakob Gehring (1939-2014)

Walter Jakob Gehring discovered the homeobox, a DNA segment found in a specific cluster of genes that determine the body plan of animals, plants, and fungi. Gehring identified the homeobox in 1983, with the help of colleagues while isolating the Antennapedia (Antp) gene in fruit flies (Drosophila) at the University of Basel in Basel, Switzerland. Hox genes, a family of genes that have the homeobox, determine the head-to-tail (anterior-posterior) body axis of both vertebrates and invertebrates.

Format: Articles

Subject: People

Digit Regeneration Is Regulated by Msx1 and BMP4 in Fetal Mice (2003), by Manjong Han et al.

In the early 2000s, Manjong Han, Xiaodang Yang, Jennifer Farrington, and Ken Muneoka investigated how genes and proteins in fetal mice (Mus musculus) influenced those fetal mice to regenerate severed toes at Tulane University in New Orleans, Louisiana. The group used hind limbs from mice to show how the gene Msx1 (Homeobox 7) functions in regenerating amputated digits.

Format: Articles

Subject: Experiments

Light Therapy for Neonatal Jaundice

Light therapy, also called phototherapy, exposes infants with jaundice, a yellowing of the skin and eyes, to artificial or natural light to break down the buildup of bilirubin pigment in the blood. Bilirubin is an orange to red pigment produced when red blood cells break down, which causes infants to turn into a yellowish color. Small amounts of bilirubin in the blood are normal, but when there is an accumulation of excess bilirubin pigment, the body deposits the excess bilirubin in the layer of fat beneath the skin.

Format: Articles

Subject: Technologies

Beadle and Tatum's 1941 Experiments with Neurospora Revealed that Genes Produce Enzymes

This illustration shows George Beadle and Edward Tatum's experiments with Neurospora crassa that indicated that single genes produce single enzymes. The pair conducted the experiments at Stanford University in Palo Alto, California. Enzymes are types of proteins that can catalyze reactions inside cells, reactions that produce a number of things, including nutrients that the cell needs. Neurospora crassa is a species of mold that grows on bread.

Format: Graphics

Subject: Theories, Experiments

Gordon Watkins Douglas (1921-2000)

Gordon Watkins Douglas researched cervical cancer, breach delivery, and treatment of high blood pressure during pregnancy in the US during the twentieth century. He worked primarily at Bellevue Hospital Center in New York, New York. While at Bellevue, he worked with William E. Studdiford to develop treatments for women who contracted infections as a result of illegal abortions performed throughout the US in unsterile environments.

Format: Articles

Subject: People

Ponseti's Treatment for Congenital Clubfoot (1963)

In 1963, Ignacio Ponseti and Eugene Smoley experimentally determined an effective and minimally invasive method of treating congenital clubfoot. Congenital clubfoot is a disorder in which a newborn’s foot is rigidly turned inwards and upwards. During the early 1960s, orthopedists often relied on invasive surgical procedures to treat clubfoot.

Format: Articles

Subject: Experiments

Beadle's One Gene-One Enzyme Hypothesis

Between 1934 and 1945, George Beadle developed a hypothesis that each gene within the chromosomes of organisms each produced one enzyme. Enzymes are types of proteins that can catalyze reactions inside cells, and the figure shows that each enzyme controls a stage in a series of biochemical reactions. The top box in this figure represents a normal process of enzyme production and biochemical reactions, and the bottom box shows how Beadle's experiments affected the normal biochemical process.

Format: Graphics

Subject: Theories, Processes

Lap-Chee Tsui (1950-)

Lap-Chee Tsui is a geneticist who discovered the cystic fibrosis (CF) gene, and his research team sequenced human chromosome 7. As the location of the cystic fibrosis gene is now known, it is possible for doctors and specialists to identify in human fetuses the mutation that causes the fatal disease. Tsui's research also outlined the mechanisms for the development of cystic fibrosis, which were previously unknown.

Format: Articles

Subject: People, Reproduction

Rudolf Carl Virchow (1821-1902)

Rudolf Carl Virchow lived in nineteenth century Prussia, now Germany, and proposed that omnis cellula e cellula, which translates to each cell comes from another cell, and which became and fundamental concept for cell theory. He helped found two fields, cellular pathology and comparative pathology, and he contributed to many others. Ultimately Virchow argued that disease is caused by changes in normal cells, also known as cellular pathology.

Format: Articles

Subject: People

Human Fertilisation and Embryology Authority (1991- )

In 1991, the
United Kingdom established the Human Fertilisation and Embryology
Authority (HFEA) as a response to technologies that used human embryos.
The HFEA is a regulatory power of the Health and Social Services
Department in London, UK, that oversees the implementation of
reproductive technologies and the use of embryos in research within the
United Kingdom. It establishes protocols by which researchers may use
human embryos, develops legislation on how human embryos are stored and

Format: Articles

Subject: Organizations

"The Origin and Behavior of Mutable Loci in Maize" (1950), by Barbara McClintock

The Origin and Behavior of Mutable Loci in Maize, by Barbara McClintock, was published in 1950 in the Proceedings of the National Academy of Sciences of the United States of America. McClintock worked at the Cold Spring Harbor Laboratory in Laurel Hollow, New York, at the time of the publication, and describes her discovery of transposable elements in the genome of corn (Zea mays). Transposable elements, sometimes called transposons or jumping genes, are pieces of the chromosome capable of physically changing positions along the chromosome.

Format: Articles

Subject: Publications

Lydia Estes Pinkham (1819–1883)

Lydia Estes Pinkham invented and sold Lydia Pinkham’s Vegetable Compound, a medicinal tonic used to treat menstrual discomfort and promote female reproductive health in general, in the US during the nineteenth century. Pinkham also founded Mrs. Lydia E. Pinkham Medicine Company, a business that sold natural remedies for women’s health issues. Throughout her life, Pinkham acted as an authority on female wellness, writing medical pamphlets about female anatomy and reproductive processes.

Format: Articles

Subject: People

Biological Clocks and the Formation of Human Tooth Enamel

Tooth enamel contains relics of its formation process, in the form of microstructures, which indicate the incremental way in which it forms. These microstructures, called cross-striations and striae of Retzius, develop as enamel-forming cells called ameloblasts, whcih cyclically deposit enamel on developing teeth in accordance with two different biological clocks. Cross-striations result from a twenty-four hour cycle, called a Circadian rhythm, in the enamel deposition process, while striae of Retzius have a longer periodicity.

Format: Articles

Subject: Processes

George W. Beadle's One Gene-One Enzyme Hypothesis

The one gene-one enzyme hypothesis, proposed by George Wells Beadle in the US in 1941, is the theory that each gene directly produces a single enzyme, which consequently affects an individual step in a metabolic pathway. In 1941, Beadle demonstrated that one gene in a fruit fly controlled a single, specific chemical reaction in the fruit fly, which one enzyme controlled.

Format: Articles

Subject: Theories

John Charles Rock (1890-1984)

Born on 24 March 1890 in Marlborough, Massachusetts, to Ann and Frank Rock, John Charles Rock was both a devout Catholic and one of the leading investigators involved in the development of the first oral contraceptive pill. In 1925 he married Anna Thorndike, with whom he later had five children. He spent over thirty years of his career as a clinical professor of obstetrics at Harvard Medical School, and in 1964 the Center for Population Studies of the Harvard School of Public Health established the John Rock Professorship.

Format: Articles

Subject: People, Reproduction

Corpus Callosum Defects Associated with Fetal Alcohol Syndrome

Prenatal exposure to alcohol (ethanol) can result in a continuum of developmental abnormalities that are highly variable depending on the severity, duration, frequency, and timing of exposure during gestation. Defects of the corpus callosum (CC) have proven to be a reliable indicator of prenatal alcohol exposure as it affects the brain. Structural abnormalities of the CC occur along a continuum, like most alcohol-induced anomalies, whereby more severe prenatal exposure results in a greater expression of the abnormal trait.

Format: Articles

Subject: Disorders, Reproduction

"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

Gustav Jacob Born (1851-1900)

Gustav Jacob Born was an experimental embryologist whose original work with amphibians served as the platform for his wax-plate method of embryo modeling, heteroblastic (different tissues) and xenoplastic (similar species) transplantation methods, environmental influences on sex ratio studies, and proposed function of the corpus luteum. He was born 22 April 1851 in Kempen, Prussia, but his family moved to the larger city of Görlitz within a year after Born's birth. His father was Marcus Born, a physician and public health officer who practiced in the town of Görlitz.

Format: Articles

Subject: People

Ignacio Vives Ponseti (1914-2009)

Ignacio Vives Ponseti developed a noninvasive method for treating congenital club foot in the US during the late 1940s. Congenital club foot is a birth deformity in which one or both of an infant's feet are rotated inward beneath the ankle, making normal movement rigid and painful. Ponseti developed a treatment method, later called the Ponseti method, that consisted of a series of manipulations and castings of the club foot performed in the first few months of life.

Format: Articles

Subject: People