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Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis (PGD) involves testing for specific genetic conditions prior to the implantation of an embryo in the uterine wall. This form of genetic screening has been made possible by the growth of in-vitro fertilization (IVF) technology, which allows for the early stages of development to occur in a laboratory dish rather than in vivo. The purpose of PGD is to identify what are considered to be abnormal embryos in order to select the most desirable embryos for implantation.

Format: Articles

Subject: Technologies, Reproduction

The Case Against Perfection: Ethics in the Age of Genetic Engineering (2007), by Michael J. Sandel

The Case against Perfection: Ethics in the Age of Genetic Engineering, hereafter referred to as The Case against Perfection, written by Michael J. Sandel, builds on a short essay featured in The Atlantic Monthly magazine in 2004. Three years later, Sandel transformed his article into a book, keeping the same title but expanding upon his personal critique of genetic engineering. The purpose of Sandel's book is to articulate the sources of what he considers to be widespread public unease related to genetic engineering that changes the course of natural development.

Format: Articles

Subject: Publications, Ethics

US Endocrine Disruptor Screening Program

In 1996, the US Congress mandated that the US Environmental Protection Agency (EPA) create and regulate the Endocrine Disruptor Screening Program. The program tests industrial and agricultural chemicals for hormonal impacts in humans and in wildlife that may disrupt organisms' endocrine systems. The endocrine system regulates the release of small amounts of chemical substances called hormones to keep the body functioning normally.

Format: Articles

Subject: Disorders, Legal, Ethics

"Screening for Congenital Hypothyroidism" (1991), by Delbert A. Fisher

In his 1991 article Screening for Congenital Hypothyroidism, Delbert A. Fisher in the US reported on the implementation and impact of mass neonatal screening programs for congenital hypothyroidism (CH) from the early 1970s through 1991. CH is a condition that causes stunted mental and physical development in newborns unless treatment begins within the first three months of the newborn's life. In the early 1970s, regions in Canada and the US had implemented screening programs to diagnose and treat CH as quickly as possible after the infant's birth.

Format: Articles

Subject: Publications, Technologies

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

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.

Format: Articles

Subject: Organization

“Screening for Breast Cancer with Mammography” (2013), by Peter Gøtzsche and Karsten Jørgensen

Screening for Breast Cancer with Mammography is a Cochrane systematic review originally published by Peter Gøtzsche and Karsten Jørgensen in 2001 and updated multiple times by 2013. In the 2013 article, the authors discuss the reliability of the results from different clinical trials involving mammography and provide their conclusions about whether mammography screening is useful in preventing deaths from breast cancer.

Format: Articles

Subject: Publications

HIP Randomized Breast Cancer Screening Trial (1963–1982)

From 1963 to 1982, researchers in New York City, New York, carried out a randomized trial of mammography screening. Mammography is the use of X-ray technology to find breast cancer at early stages. The private insurance company Health Insurance Plan of Greater New York, or HIP, collaborated with researchers Sam Shapiro, Philip Strax, and Louis Venet on the trial. The researchers’ goal was to determine whether mammography screening reduced breast cancer mortality in women. The study included sixty thousand women aged forty to sixty-four.

Format: Articles

Subject: Experiment

Seed Collection and Plant Genetic Diversity, 1900-1979

Farmers have long relied on genetic diversity to breed new crops, but in the early 1900s scientists began to study the importance of plant genetic diversity for agriculture. Scientists realized that seed crops could be systematically bred with their wild relatives to incorporate specific genetic traits or to produce hybrids for more productive crop yields.

Format: Articles

Subject: Organizations

The Guthrie Test for Early Diagnosis of Phenylketonuria

The Guthrie test, also called the PKU test, is a diagnostic tool to test infants for phenylketonuria a few days after birth. To administer the Guthrie test, doctors use Guthrie cards to collect capillary blood from an infant’s heel, and the cards are saved for later testing. Robert Guthrie invented the test in 1962 in Buffalo, New York. Phenylketonuria (PKU) is a congenital birth abnormality in which toxic levels of the amino acid phenylalanine build up in the blood, a process that affects the brains in untreated infants.

Format: Articles

Subject: Technologies

"Genetic Control of Biochemical Reactions in Neurospora" (1941), by George W. Beadle and Edward L. Tatum

George Wells Beadle and Edward Lawrie Tatum's 1941 article Genetic Control of Biochemical Reactions in Neurospora detailed their experiments on how genes regulated chemical reactions, and how the chemical reactions in turn affected development in the organism. Beadle and Tatum experimented on Neurospora, a type of bread mold, and they concluded that mutations to genes affected the enzymes of organisms, a result that biologists later generalized to proteins, not just enzymes.

Format: Articles

Subject: Experiments

International Treaty on Plant Genetic Resources for Food and Agriculture (2001)

The International Treaty on Plant Genetic Resources for Food and Agriculture, referred to as the Plant Treaty, was approved on 3 November 2001 by Members of the Food and Agriculture Organization (FAO), headquartered in Rome, Italy. The FAO is an agency of the United Nations, headquartered in New York City, New York. The Plant Treaty established international standards for the conservation and exchange of plant genetic material between participating countries.

Subject: Legal

The Genetic Control and Cytoplasmic Expression of 'Inducibility' in the synthesis of B-galactosidase" (1959), by Arthur B. Pardee, Francois Jacob, and Jacques Monod

Between 1957 and 1959, Arthur Pardee, Francois Jacob, and Jacques Monod conducted a set of experiments at the Pasteur Institute in Paris, France, that was later called the PaJaMa Experiments, a moniker derived from the researchers' last names. In these experiments, they described how genes of a species of single-celled bacteria, called Escherichia coli (E. coli), controlled the processes by which enzymes were produced in those bacteria.

Format: Articles

Subject: Experiments

A plant genetically modified that accumulates Pb is especially promising for phytoremediation (2003), by Carmina Gisbert et al.

In 2003, Carmina Gisbert and her research team produced a tobacco plant that could remove lead from soil. To do so, they inserted a gene from wheat plants that produces phytochelatin synthase into a shrub tobacco plant (Nicotiana glauca) to increase N. glauca's absorption and tolerance of toxic metals, particularly lead and cadmium. Gisbert and her team aimed to genetically modify a plant so that it could be used for phytoremediation- using plants to remove toxic substances from the soil.

Format: Articles

Subject: Experiments, Technologies

"Genetic Evidence Equating SRY and the Testis-Determining Factor" (1990), by Phillippe Berta et al.

In the late 1980s, Peter Goodfellow in London, UK led a team of researchers who showed that the SRY gene in humans codes a protein that causes testes to develop in embryos. During this time, scientists in London and Paris, including Peter Koompan and John Gubbay, proposed that SRY was the gene on the Y chromosome responsible for encoding the testis-determining factor (TDF) protein. The TDF is a protein that initiates embryo to develop male characteristics.

Format: Articles

Subject: Experiments

"Genetic Programming: Artificial Nervous Systems, Artificial Embryos and Embryological Electronics" (1991), by Hugo de Garis

In 1991, Hugo de Garis' article "Genetic Programming: Artificial Nervous Systems, Artificial Embryos and Embryological Electronics" was published in the book Parallel Problem Solving from Nature. With this article de Garis hoped to create what he envisioned as a new branch of artificial embryology called embryonics (short term for "embryological electronics"). Embryonics is based on the idea of adapting the processes found in embryonic development to build artificial systems.

Format: Articles

Subject: Publications

Mary-Claire King (1946– )

Mary-Claire King studied genetics in the US in the twenty-first century. King identified two genes associated with the occurrence of breast cancer, breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2). King showed that mutated BRCA1 and BRCA2 genes cause two types of reproductive cancer, breast and ovarian cancer. Because of King’s discovery, doctors can screen women for the inheritance of mutated BRCA1 and BRCA2 genes to evaluate their risks for breast and ovarian cancer.

Format: Articles

Subject: People

"Formation of Genetically Mosaic Mouse Embryos and Early Development of Lethal (t12/t12)-Normal Mosaics" (1964), by Beatrice Mintz

The paper "Formation of Genetically Mosaic Mouse Embryos and Early Development of Lethal (t12/t12)-Normal Mosaics," by Beatrice Mintz, describes a technique to fuse two mouse embryos into a single embryo. This work was published in the Journal of Experimental Zoology in 1964. When two embryos are correctly joined before the 32-cell stage, the embryo will develop normally and exhibit a mosaic pattern of cells as an adult.

Format: Articles

Subject: Experiments

Cystic Fibrosis

Cystic fibrosis (CF) is a fatal, inherited disease found in humans and characterized by buildup of thick, sticky mucus, particularly in the respiratory and digestive tracts. The abnormally thick mucus prevents the pancreas from functioning normally; it often leads to digestive problems and chronic lung infections. Cystic fibrosis is most prevalent in Caucasian individuals, and approximately 1 in every 29 individuals in the US is a carrier for the mutated CF gene.

Format: Articles

Subject: Disorders

Eric Wieschaus (1947- )

Eric Wieschaus studied how genes cause fruit fly larvae to develop in the US and Europe during the twentieth and twenty-first centuries. Using the fruit fly Drosophila melanogaster, Wieschaus and colleague Christiane Nusslein-Volhard described genes and gene products that help form the fruit fly body plan and establish the larval segments during embryogenesis. This work earned Wieschaus and Nüsslein-Volhard the 1995 Nobel Prize in Physiology or Medicine.

Format: Articles

Subject: People

The e-Mouse Atlas Project (1992- )

The Edinburgh Mouse Atlas, also called the e-Mouse Atlas Project (EMAP), is an online resource comprised of the e-Mouse Atlas (EMA), a detailed digital model of mouse development, and the e-Mouse Atlas of Gene Expression (EMAGE), a database that identifies sites of gene expression in mouse embryos. Duncan Davidson and Richard Baldock founded the project in 1992, and the Medical Research Council (MRC) in Edinburgh, United Kingdom, funds the project.

Format: Articles

Subject: Technologies

“A Linkage Between DNA Markers on the X Chromosome and Male Sexual Orientation” (1993), by Dean H. Hamer and Charles A. Thomas.

In 1993, Dean H. Hamer and colleagues in the US published results from their research that indicated that men with speicifc genes were more likely to be homosexual than were men without those genes. The study hypothesized that some X chromosomes contain a gene, Xq28, that increases the likelihood of an individual to be homosexual. Prior to those results, researchers had argued that the cause of homosexuality was environmental and that homosexuality could be altered or reversed. Hamer’s research suggested a possible genetic cause of homosexuality.

Format: Articles

Subject: Experiments

Francis Galton (1822-1911)

Sir Francis Galton was a British science writer and amateur researcher of the late nineteenth century. He contributed greatly to the fields of statistics, experimental psychology and biometry. In the history of biology, Galton is widely regarded as the originator of the early twentieth century eugenics movement. Galton published influential writings on nature versus nurture in human personality traits, developed a family study method to identify possible inherited traits, and devised laws of genetic inheritance prior to the rediscovery of Gregor Mendel's work.

Format: Articles

Subject: People, Reproduction

George Wells Beadle (1903-1989)

George Wells Beadle studied corn, fruit flies, and funguses in the US during the twentieth century. These studies helped Beadle earn the 1958 Nobel Prize in Physiology or Medicine. Beadle shared the prize with Edward Tatum for their discovery that genes help regulate chemical processes in and between cells. This finding, initially termed the one gene-one enzyme hypothesis, helped scientists develop new techniques to study genes and DNA as molecules, not just as units of heredity between generations of organisms.

Format: Articles

Subject: People

Walter Stanborough Sutton (1877-1916)

Walter Stanborough Sutton studied grasshoppers and connected the phenomena of meiosis, segregation, and independent assortment with the chromosomal theory of inheritance in the early twentieth century in the US. Sutton researched chromosomes, then called inheritance mechanisms. He confirmed a theory of Wilhelm Roux, who studied embryos in Breslau, Germany, in the late 1880s, who had argued that chromosomes and heredity were linked. Theodor Boveri, working in Munich, Germany, independently reached similar conclusions about heredity as Sutton.

Format: Articles

Subject: People

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