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Mitochondrial Diseases in Humans

Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemostasis, cell signaling, regulation of programmed cell death (apoptosis), and biosynthesis of heme proteins that carry oxygen.

Format: Articles

Subject: Disorders, Reproduction

Davis v. Davis (1992)

In Davis v. Davis (1992), the Supreme Court of Tennessee decided a dispute over cryopreserved preembryos in favor of Junior Lewis Davis, who sought to have the preembryos destroyed over the objections of his former wife, Mary Sue Davis. The decision in Davis, although not binding in other states, suggested a framework for resolving similar disputes in the US. That framework established that courts should follow the wishes of those who contribute their sperm and egg cells, or gamete providers, to create preembryos.

Format: Articles

Subject: Legal

Georges Cuvier (1769-1832)

Georges Cuvier, baptized Georges Jean-Leopold Nicolas-Frederic Cuvier, was a professor of anatomy at the National Museum of Natural History in Paris, France, through the late eighteenth and early nineteenth centuries. Scholars recognize Cuvier as a founder of modern comparative anatomy, and as an important contributor to vertebrate paleontology and geology. Cuvier studied the form and function of animal anatomy, writing four volumes on quadruped fossils and co-writing eleven volumes on the natural history of fish with Achille Valenciennes.

Format: Articles

Subject: People

Francis Sellers Collins (1950- )

Francis Sellers Collins helped lead the International Human Genome Sequencing Consortium, which helped describe the DNA sequence of the human genome by 2001, and he helped develop technologies used in molecular genetics while working in the US in the twentieth and twenty-first centuries. He directed the US National Center for Human Genome Research (NCHGR), which became the National Human Genome Research Institute (NHGRI), of the US National Institutes of Health (NIH), located in Bethesda, Maryland, from 1993 to 2008.

Format: Articles

Subject: People

John Craig Venter (1946- )

John Craig Venter helped map the genomes of humans, fruitflies, and other organisms in the US in the late 1990s and early 2000s, and he helped develop an organism with a synthetic genome. In February 2001, Venter and his team published a human genome sequence after using a technique known as Expressed Sequence Tags, or ESTs. Venter worked to bridge commercial investment with scientific research. Venter founded a number of private companies, including the for-profit Celera Genomics, headquartered in Alameda, California, as well as research institutes, such as the not-for-profit J.

Format: Articles

Subject: People

Johann Friedrich Blumenbach (1752-1840)

In eighteenth century Germany, Johann Friedrich Blumenbach studied how individuals within a species vary, and to explain such variations, he proposed that a force operates on organisms as they develop. Blumenbach used metrical methods to study the history of humans, but he was also a natural historian and theorist. Blumenbach argued for theories of the transformation of species, or the claim that new species can develop from existing forms.

Format: Articles

Subject: People

Jan Evangelista Purkyne (1787-1869)

Jan Evangelista Purkyne, also called Johannes or Johann Evangelist Purkinje, studied cells in the cerebellum, fibers of the heart, subjective visual phenomenon, and germinal vesicle, in eastern Europe during the early nineteenth century. His investigations provided insights into various mechanisms and structures of the human body. Purkyne introduced techniques for decalcification of bones and teeth, embedding of tissue specimens, and eye examinations.

Format: Articles

Subject: People

Christiane Nusslein-Volhard (1942- )

Christiane Nusslein-Volhard studied how genes control embryonic development in flies and in fish in Europe during the twentieth and twenty-first centuries. In the 1970s, Nusslein-Volhard focused her career on studying the genetic control of development in the fruit fly Drosophila melanogaster. In 1988, Nusslein-Volhard identified the first described morphogen, a protein coded by the gene bicoid in flies. In 1995, along with Eric F. Wieschaus and Edward B.

Format: Articles

Subject: People

Early Infantile Autism and the Refrigerator Mother Theory (1943-1970)

In 1943, child psychiatrist Leo Kanner in the US gave the first account of Early Infantile Autism that encouraged psychiatrists to investigate what they called emotionally cold mothers, or refrigerator mothers. In 1949, Kanner published Problems of Nosology and Psychodynamics of Early Infantile Autism. In that article, Kanner described autistic children as reared in emotional refrigerators. US child psychiatrists claimed that some psychological or behavioral conditions might have origins in emotional or mental stress, meaning that they might be psychogenic.

Format: Articles

Subject: Disorders, Theories

"Mitochondrial DNA and Human Evolution" (1987), by Rebecca Louise Cann, Mark Stoneking, and Allan Charles Wilson

In 1987 Rebecca Louise Cann, Mark Stoneking, and Allan Charles Wilson published Mitochondrial DNA and Human Evolution in the journal Nature. The authors compared mitochondrial DNA from different human populations worldwide, and from those comparisons they argued that all human populations had a common ancestor in Africa around 200,000 years ago. Mitochondria DNA (mtDNA) is a small circular genome found in the subcellular organelles, called mitochondria.

Format: Articles

Subject: Publications, Theories

Theophilus Shickel Painter (1889-1969)

Theophilus Shickel Painter studied the structure and
function of chromosomes in the US during in the early to mid-twentieth century. Painter worked at
the University of Texas at Austin in Austin, Texas. In the 1920s
and 1930s, Painter studied the chromosomes of the salivary gland
giant chromosomes of the fruit fly (Drosophila
melanogaster), with Hermann J. Muller. Muller and Painter
studied the ability of X-rays to cause changes in the chromosomes
of fruit flies. Painter also studied chromosomes in mammals.

Format: Articles

Subject: People

Theodora (Theo) Emily Colborn (1927-2014)

Theodora Colborn studied how chemicals affect organisms as they develop and reproduce during the twentieth and twenty first centuries in the US. By the 1940s, researchers had reported that chemicals from agricultural and industrial processes affected how wild organisms developed, but in 1991, Colborn organized the Wingspread Conference in Racine, Wisconsin, at which a group of scientists classed these chemicals as environmentally harmful substances. Colborn and her colleagues called those chemicals endocrine disruptors, as they mimic or block the body's endocrine system.

Format: Articles

Subject: People

Roy Chapman Andrews (1884-1960)

Roy Chapman Andrews traveled the world studying fossils, from mammals to dinosaurs, during the first half of the twentieth century. Andrews worked and collected fossil specimens for the American Museum of Natural History (AMNH) in New York City, New York. Throughout his career, Andrews collected bones of many animal species, including a previously unknown species of a horned, herbivorous dinosaur, later named Proceratops andrewsi in his honor. Andrews published widely read narratives about his travels and field experiences, such as On the Trail of Ancient Man and Across Mongolian Plains.

Format: Articles

Subject: People

Robert Lanza (1956- )

During the twentieth and twenty-first centuries, Robert Paul Lanza studied embryonic stem cells, tissues,
and endangered species as chief scientific officer of Advanced Cell
Technology, Incorporated in Worcester, Massachusetts. Lanza's team cloned
the endangered species of gaur Bos gaurus.
Although the gaur did not survive long, Lanza successfully cloned
another cow-like creature, called the banteng
(Bos
javanicus). Lanza also worked on cloning human embryos
to harvest stem cells, which could be used to treat dieases. While

Format: Articles

Subject: People

Alfred Day Hershey (1908–1997)

During the twentieth century in the United States, Alfred Day Hershey studied phages, or viruses that infect bacteria, and experimentally verified that genes were made of deoxyribonucleic acid, or DNA. Genes are molecular, heritable instructions for how an organism develops. When Hershey started to study phages, scientists did not know if phages contained genes, or whether genes were made of DNA or protein. In 1952, Hershey and his research assistant, Martha Chase, conducted phage experiments that convinced scientists that genes were made of DNA.

Format: Articles

Subject: People

Heart of a Dog (1925), by Mikhail Bulgakov

Собачье сердце (Heart of a Dog) is a novella written in 1925 by author and playwright Mikhail Bulgakov in Moscow, USSR, later Russia. An early English translation was published in 1968. Heart of a Dog tells the story of a stray dog named Sharik, who is found by a surgeon, and undergoes extensive surgery for experimental purposes to create a New Soviet man, someone committed to the ideals of communism in the Soviet Union.

Format: Articles

Subject: Publications

“Use of reproductive technology for sex selection for nonmedical reasons” (2015), by the Ethics Committee of the American Society for Reproductive Medicine

In June 2015, the Ethics Committee of the American Society for Reproductive Medicine, or ASRM, published “Use of reproductive technology for sex selection for nonmedical reasons” in Fertility and Sterility. In the report, the Committee presents arguments for and against the use of reproductive technology for sex selection for any reason besides avoiding sex-linked disorders, or genetic disorders that only affect a particular sex.

Format: Articles

Subject: Publications

Sex in a Cold Climate (1998)

In 1998, Testimony Films released the documentary Sex in a Cold Climate, which reported the true stories of four survivors from the Magdalene asylums in Ireland in the twentieth century. Magdalene asylums, also called Magdalene laundries and homes, were institutions of the Catholic Church that sought to reform women engaged in prostitution and those who birthed children out of wedlock by forcing the women to do hard labor.

Format: Articles

Subject: Outreach, Publications

Stephen Jay Gould (1941-2002)

Stephen Jay Gould studied snail fossils and worked at Harvard University in Cambridge, Massachusetts during the latter half of the twentieth century. He contributed to philosophical, historical, and scientific ideas in paleontology, evolutionary theory, and developmental biology. Gould, with Niles Eldredge, proposed the theory of punctuated equilibrium, a view of evolution by which species undergo long periods of stasis followed by rapid changes over relatively short periods instead of continually accumulating slow changes over millions of years.

Format: Articles

Subject: People

Your Baby’s Sex: Now You Can Choose (1970), by David M. Rorvik and Landrum B. Shettles

In the book Your Baby’s Sex: Now You Can Choose, David Michael Rorvik and Landrum Brewer Shettles describe methods that couples can use prior to and during conception that will increase the chances of producing a child of their desired sex. Rorvik, a science writer, and Shettles, an obstetrics and gynecology researcher and physician, co-wrote the book. Shettles developed the methods detailed in the book during the 1960s. Although the authors claim a high success rate, some researchers have contested the validity of the methods proposed in Your Baby’s Sex: Now You Can Choose.

Format: Articles

Subject: Publications

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

William John Little (1810–1894)

William John Little was one of the first orthopedic surgeons to research congenital malformations and their causes in the nineteenth century and presented preliminary research on a condition modernly known as cerebral palsy, a condition of varying severity that affects a person’s ability to move. Little worked throughout the United Kingdom for the majority of the time he practiced medicine, and eventually founded one of the first orthopedic infirmaries, the Royal Orthopedic Hospital in London, England.

Format: Articles

Subject: People, Disorders

The Kallikak Family: A Study in the Heredity of Feeble-Mindedness (1912), by Henry Herbert Goddard

In 1912, Henry Herbert Goddard published The Kallikak Family: A Study in the Heredity of Feeble-Mindedness, hereafter The Kallikak Family, in which he argues that people inherit feeble-mindedness, which is presently known as intellectual disability. Feeble-mindedness, according to Goddard, is the source of, what he refers to as, degeneracy, including behaviors such as alcoholism, criminal behavior, prostitution, and sexual promiscuity.

Format: Articles

Subject: Publications

Joseph Bolivar DeLee (1869–1942)

Joseph Bolivar DeLee was an obstetrician in the US between the nineteenth and twentieth centuries who advocated for the specialized teaching of medical students in the field of obstetrics to address problems occurring during pregnancy. He claimed obstetricians maintained a wider skillset than midwives, and founded the Chicago Lying-In Hospital to provide affordable obstetric care to women in Chicago, Illinois.

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