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Using Digital PCR to Detect Fetal Chromosomal Aneuploidy in Maternal Blood (2007)
In 2007, Dennis Lo and his colleagues used digital polymerase chain reaction or PCR to detect trisomy 21 in maternal blood, validating the method as a means to detect fetal chromosomal aneuploidies, or an abnormal number of chromosomes in a cell. The team conducted their research at the Chinese University of Hong Kong in Hong Kong, Hong Kong, and at the Boston University in Boston, Massachusetts.
The Marine Biological Laboratory Embryology Course
The Marine Biological Laboratory (MBL) in Woods Hole, Massachusetts, began in 1888 to offer opportunities for instruction and research in biological topics. For the first few years, this meant that individual investigators had a small lab space upstairs in the one wooden building on campus where students heard their lectures and did their research in a common area downstairs.
“An Extended Family with a Dominantly Inherited Speech Disorder” (1990), by Jane A. Hurst et al.
In 1990, researcher Jane Hurst and her colleagues published “An Extended Family With a Dominantly Inherited Speech Disorder,” in which they proposed that a single gene was responsible for a language disorder across three generations of a family. Affected individuals of the family, called the KE family, had difficulty producing, expressing and comprehending speech. Hurst and her team studied the KE family and the disorder at the Department of Clinical Genetics at the Great Ormond Street Hospital for Children in London, England.
Subject: Publications, Disorders
Neurocristopathies are a class of pathologies in vertebrates,
including humans, that result from abnormal expression, migration,
differentiation, or death of neural crest cells (NCCs) during embryonic development. NCCs are cells
derived from the embryonic cellular structure called the neural crest.
Abnormal NCCs can cause a neurocristopathy by chemically affecting the
development of the non-NCC tissues around them. They can also affect the
development of NCC tissues, causing defective migration or
“Mothers’ Anxiety During Pregnancy Is Associated with Asthma in Their Children” (2009), by Hannah Cookson, Raquel Granell, Carol Joinson, Yoav Ben-Shlomo, and A. John Henderson
In 2009, A. John Henderson and colleagues published “Mothers’ Anxiety During Pregnancy Is Associated with Asthma in Their Children,” hereafter, “Mothers’ Anxiety,” in The Journal of Allergy and Clinical Immunology. Previous studies had shown that maternal stress during pregnancy affects children’s health during childhood. The researchers explored the association of asthma in children with maternal anxiety during pregnancy. The cause of asthma is often unknown.
Subject: Theories, Reproduction, Publications, Disorders
"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.
Hermann Joseph Muller (1890-1967)
Hermann Joseph Muller studied the effects of x-ray radiation on genetic material in the US during the twentieth century. At that time, scientists had yet to determine the dangers that x-rays presented. In 1927, Muller demonstrated that x-rays, a form of high-energy radiation, can mutate the structure of genetic material. Muller warned others of the dangers of radiation, advising radiologists to protect themselves and their patients from radiation. He also opposed the indiscriminate use of radiation in medical and industrial fields.
Hermann Joseph Muller's Study of X-rays as a Mutagen, (1926-1927)
Hermann Joseph Muller conducted three experiments in 1926 and 1927 that demonstrated that exposure to x-rays, a form of high-energy radiation, can cause genetic mutations, changes to an organism's genome, particularly in egg and sperm cells. In his experiments, Muller exposed fruit flies (Drosophila) to x-rays, mated the flies, and observed the number of mutations in the offspring. In 1927, Muller described the results of his experiments in "Artificial Transmutation of the Gene" and "The Problem of Genic Modification".
“The Emergence of Developmental Psychopathology” (1984), by Dante Cicchetti
In 1984, Dante Cicchetti published “The Emergence of Developmental Psychopathology,” an article in which he argued that the previously amorphous study of developmental psychopathology was emerging as a unified discipline. According to Cicchetti, developmental psychopathology describes an interdisciplinary field that studies abnormalities in psychological function that can arise during human development.
José Pedro Balmaceda (1948- )
José Pedro Balmaceda was born 22 August 1948 in Santiago, Chile. His mother Juanita owned a women's boutique in the city and his father José was a successful owner of several timber mills. He grew up with five sisters who remained in Santiago all their lives. Balmaceda attended the college preparatory school San Ignatius where he met Sergio Stone, his future partner at the Center for Reproductive Health fertility clinic in the University of California Irvine Medical Center.
Subject: People, Reproduction
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.
Subject: People, Reproduction
Alejandro Sánchez Alvarado (1964- )
Alejandro Sánchez Alvarado is a Professor of Neurobiology and Anatomy at the University of Utah School of Medicine and is also a Howard Hughes Medical Institute Investigator. Born in Caracas, Venezuela, 24 February 1964, Sánchez Alvarado left his home to pursue education in the United States, where he received a Bachelor of Science in molecular biology and chemistry from Vanderbilt University in 1986 and a Doctorate in pharmacology and cell biophysics at the University of Cincinnati College of Medicine in 1992.
Torsten Wiesel (1924– )
Torsten Nils Wiesel studied visual information processing and development in the US during the twentieth century. He performed multiple experiments on cats in which he sewed one of their eyes shut and monitored the response of the cat’s visual system after opening the sutured eye. For his work on visual processing, Wiesel received the Nobel Prize in Physiology or Medicine in 1981 along with David Hubel and Roger Sperry.
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.
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.
George McDonald Church (1954- )
George McDonald Church studied DNA from living and from extinct species in the US during the twentieth and twenty-first centuries. Church helped to develop and refine techniques with which to describe the complete sequence of all the DNA nucleotides in an organism's genome, techniques such as multiplex sequencing, polony sequencing, and nanopore sequencing. Church also contributed to the Human Genome Project, and in 2005 he helped start a company, the Personal Genome Project. Church proposed to use DNA from extinct species to clone and breed new organisms from those species.
Subject: People, Technologies
The National Society of Genetic Counselors (NSGC)
Audrey Heimler and colleagues founded the National Society of Genetic Counselors (NSGC) in 1979 in New Hyde Park in New York, New York. Her stated goals were to establish the field of genetic counseling within biomedicine and to coordinate counselors’ voices, so that physicians and others in the medical industry would not dictate the future of the field. Genetic counselors inform patients about the potential for inherited diseases passed on through family lineages and help to navigate the options available.
Charles Robert Cantor (1942- )
Charles Robert Cantor helped sequence the human genome, and he developed methods to non-invasively determine the genes in human fetuses. Cantor worked in the US during the twentieth and twenty-first centuries. His early research focused on oligonucleotides, small molecules of DNA or RNA. That research enabled the development of a technique that Cantor subsequently used to describe nucleotide sequences of DNA, a process called sequencing, in humans. Cantor was the principal scientist for the Human Genome Project, for which scientists sequenced the entirety of the human genome in 2003.
Subject: People, Reproduction
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.
Wilhelm His, Sr. (1831-1904)
Wilhelm His, Sr. was born on 9 July 1831 in Basel, Switzerland, to Katharina La Roche and Eduard His. He began his medical studies at Basel in 1849 and later transferred to the University of Bern during the winter semester of 1849-1850. A year later, His arrived at the University of Berlin, where he studied under Johannes Müller and Robert Remak. For his clinical training, His attended the University of Würzburg from 1852-1853.
Wilhelm Roux (1850-1924)
Wilhelm Roux was a nineteenth-century experimental embryologist who was best known for pioneering Entwicklungsmechanik, or developmental mechanics. Roux was born in Jena, Germany, on 9 June 1850, the only son of Clotilde Baumbach and a university fencing master, F. A. Wilhelm Ludwig Roux. Roux described himself as an aloof child, but when he was fourteen he cultivated a passion for science that was encouraged by the director at Oberrealschule in Meiningen.
Slime mold development video by John Tyler Bonner
This video is composed of a sequence of time lapse films created by John Tyler Bonner in the 1940s to show the life cycle of the cellular slime mold, Dictyostelium discoideum. As only the second person to study slime molds, Bonner frequently encountered audiences who had never heard of, let alone seen, the unusual organism. He therefore decided to create a film to present at seminars in order to introduce his object of study. Bonner created the video for his senior thesis at Harvard University with the help of photographer Frank Smith.
Julia Barlow Platt (1857-1935)
Julia Barlow Platt studied neural crests in animal embryos and became involved in politics in the US during the nineteenth and twentieth centuries. She researched how body and head segments formed in chicks (Gallus gallus) and spiny dogfish (Squalus acanthias). Platt observed that in the mudpuppy (Necturus maculosus), the coordinated migration of neural crest cells in the embryo produced parts of the nervous system, bones, and connective tissues in the head.
Robert Guthrie (1916–1995)
Robert Guthrie developed a method to test infants for phenylketonuria (PKU) in the United States during the twentieth century. PKU is an inherited condition that causes an amino acid called phenylalanine to build to toxic levels in the blood. Untreated, PKU causes mental disabilities. Before Guthrie’s test, physicians rarely tested infants for PKU and struggled to diagnosis it. Guthrie’s test enabled newborns to be quickly and cheaply screened at birth and then treated for PKU if necessary, preventing irreversible neurological damage.
"Human Toxoplasmosis: Occurrence in Infants as an Encephalomyelitis Verification of Transmission to Animals" (1939), by Abner Wolf et al.
In a series of experiments during mid 1930s, a team of researchers in New York helped establish that bacteria of the species Toxoplasma gondii can infect humans, and in infants can cause toxoplasmosis, a disease that inflames brains, lungs, and hearts, and that can organisms that have it. The team included Abner Wolf, David Cowen, and Beryl Paige. They published the results of their experiment in Human Toxoplasmosis: Occurrence in Infants as an Encephalomyelitis Verification of Transmission to Animals.
Subject: Experiments, Reproduction, Disorders