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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: Organizations
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: Experiments
“Genetical Implications of the Structure of Deoxyribonucleic Acid” (1953), by James Watson and Francis Crick
In May 1953, scientists James Watson and Francis Crick wrote the article “Genetical Implications of the Structure of Deoxyribonucleic Acid,” hereafter “Genetical Implications,” which was published in the journal Nature.
Format: Articles
Subject: Publications
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
"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
40 Weeks (2014)
In 2014, Big Belli, a media and social networking brand, released a documentary called 40 Weeks online. The documentary, directed by Christopher Henze, followed multiple women during their pregnancies. The film predominantly features three women, though it includes the stories of many. Throughout the film, women detail their accounts of the physical and emotional changes that occur during pregnancy.
Format: Articles
Subject: Publications
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
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
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
Genetics and IVF Institute, GIVF
In 1984, human genetics and reproduction researcher and physician Joseph D. Schulman founded the Genetics and IVF Institute, an international organization that provides infertility treatment and genetic services to patients. IVF stands for in vitro fertilization, an infertility treatment in which a female egg is fertilized by male sperm outside of the female body. GIVF is headquartered in Fairfax, Virginia, in association with Inova Health System, formerly called the Fairfax Hospital Association, one of the largest regional hospital systems in the United States.
Format: Articles
Subject: Organizations, Reproduction
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 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
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
“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
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
Plowman v. Fort Madison Community Hospital (2017)
In June 2017, the Iowa Supreme Court decided the case Plowman v. Fort Madison Community Hospital, or Plowman v. FMCH, and ruled that women who gave birth to children with severe disabilities could sue for wrongful birth in Iowa. Specifically, after Plowman v. FMCH, a woman could sue for wrongful birth if she believed that her physicians failed to disclose evidence of fetal abnormalities that may have prompted her to terminate the pregnancy.
Format: Articles
Subject: Legal
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
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
Curt Jacob Stern (1902-1981)
Curt Jacob Stern studied radiation and chromosomes in humans and fruit flies in the United States during the twentieth century. He researched the mechanisms of inheritance and of mitosis, or the process in which the chromosomes in the nucleus of a single cell, called the parent cell, split into identical sets and yield two cells, called daughter cells. Stern worked on the Drosophila melanogaster fruit fly, and he provided early evidence that chromosomes exchange genetic material during cellular reproduction.
Format: Articles
Subject: People
Alec Jeffreys’s Experiments to Identify Individuals by Their Beta-globin Genes (1977-1979)
In a series of experiments in the late 1970s, Alec J. Jeffreys in the UK and Richard A. Flavell in the Netherlands developed a technique to detect variations in the DNA of different individuals. They compared fragments of DNA from individuals’ beta-globin genes, which produce a protein in hemoglobin. Previously, to identify biological material, scientists focused on proteins rather than on genes. But evidence about proteins enabled scientists only to exclude, but not to identify, individuals as the sources of the biological samples.
Format: Articles
Subject: Experiments
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
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
Homeobox Genes and the Homeobox
Homeobox genes are a cluster of regulatory genes that are spatially and temporally expressed during early embryological development. They are interesting from both a developmental and evolutionary perspective since their sequences are highly conserved and shared across an enormously wide array of living taxa.
Format: Articles
Subject: Processes