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William Bateson (1861-1926)

At the turn of the twentieth century, William Bateson studied organismal variation and heredity of traits within the framework of evolutionary theory in England. Bateson applied Gregor Mendel's work to Charles Darwin's theory of evolution and coined the term genetics for a new biological discipline. By studying variation and advocating Mendelian genetics, Bateson furthered the field of genetics, encouraged the use of experimental methodology to study heredity, and contributed to later theories of genetic inheritance.

Format: Articles

Subject: People

Diana W. Bianchi

Diana W. Bianchi studied the medical treatment of premature and newborn infants in the US during the twentieth and twenty-first centuries. Bianchi helped develop non-invasive prenatal genetic tests that use cell-free fetal DNA found within maternal blood to diagnose genetic abnormalities of the fetus during pregnancy. The test provides a means to test fetuses for chromosomal and genetic abnormalities.

Format: Articles

Subject: People

Keith Henry Stockman Campbell (1954-2012)

Keith Henry Stockman Campbell studied embryo growth and cell differentiation during the twentieth and twenty-first centuries in the UK. In 1995, Campbell and his scientific team used cells grown and differentiated in a laboratory to clone sheep for the first time. They named these two sheep Megan and Morag. Campbell and his team also cloned a sheep from adult cells in 1996, which they named Dolly. Dolly was the first mammal cloned from specialized adult (somatic) cells with the technique of somatic cell nuclear transfer (SCNT).

Format: Articles

Subject: People

"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

“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

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

Wilhelm Johannsen's Genotype-Phenotype Distinction

Wilhelm Johannsen in Denmark first proposed the distinction between genotype and phenotype in the study of heredity in 1909. This distinction is between the hereditary dispositions of organisms (their genotypes) and the ways in which those dispositions manifest themselves in the physical characteristics of those organisms (their phenotypes). This distinction was an outgrowth of Johannsen's experiments concerning heritable variation in plants, and it influenced his pure line theory of heredity.

Format: Articles

Subject: Theories

Sheldon Clark Reed (1910-2003)

Sheldon Clark Reed helped establish the profession of genetic counseling in the US during the twentieth century. In 1947 Reed coined the term genetic counseling to describe the interaction of a doctor explaining to a patient the likelihood of passing a certain trait to their offspring. With physicians being able to test for genetic abnormalities like cystic fibrosis, Reed helped trained individuals give patients the tools to make informed decisions. In 1955 Reed published the book Counseling in Medical Genetics.

Format: Articles

Subject: People

Muriel Wheldale Onslow (1880-1932)

Muriel Wheldale Onslow studied flowers in England with genetic and biochemical techniques in the early twentieth century. Working with geneticist William Bateson, Onslow used Mendelian principles and biochemical analysis together to understand the inheritance of flower colors at the beginning of the twentieth century. Onslow's study of snapdragons, or Antirrhinum majus, resulted in her description of epistasis, a phenomenon in which the phenotypic effect of one gene is influenced by one or more other genes. She discovered several biochemicals related to color formation.

Format: Articles

Subject: People

In the Womb: Identical Twins (2009), by National Geographic

National Geographic's documentary In the Womb: Identical Twins focuses on the prenatal development of human identical twins. Director Lorne Townend uses three-dimensional (3D) and four-dimensional (4D) ultrasound imaging and microscopy to depict twin development , genetic and epigenetic variations in the fetuses, and methods of fetal survival in the confines of the womb. Artist renditions of scientific data fill in areas of development inaccessible to the imaging tools.

Format: Articles

Subject: Outreach, Reproduction

The French Flag Model

The French flag model represents how embryonic cells receive and respond to genetic information and subsequently differentiate into patterns. Created by Lewis Wolpert in the late 1960s, the model uses the French tricolor flag as visual representation to explain how embryonic cells can interpret genetic code to create the same pattern even when certain pieces of the embryo are removed. Wolpert's model has provided crucial theoretical framework for investigating universal mechanisms of pattern formation during development.

Format: Articles

Subject: Processes, Theories

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

Beadle and Ephrussi's Transplantation Technique for Drosophila

Boris Ephrussi and George Wells Beadle developed a transplantation technique on flies, Drosophila melanogaster, which they described in their 1936 article A Technique of Transplantation for Drosophila. The technique of injecting a tissue from one fly larva into another fly larva, using a micropipette, to grow that tissue in the second larvae, was a means for investigating development of Drosophila. Through this technique, Beadle and Ephrussi studied the role of genes in embryological processes.

Format: Articles

Subject: Technologies

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

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

"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.

Format: Articles

Subject: Experiments

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.

Format: Articles

Subject: People

Barbara McClintock (1902-1992)

Barbara McClintock worked on genetics in corn (maize) plants and spent most of her life conducting research at the Cold Spring Harbor Laboratory in Laurel Hollow, New York. McClintock's research focused on reproduction and mutations in maize, and described the phenomenon of genetic crossover in chromosomes. Through her maize mutation experiments, McClintock observed transposons, or mobile elements of genes within the chromosome, which jump around the genome. McClintock received the Nobel Prize for Physiology or Medicine in 1983 for her research on chromosome transposition.

Format: Articles

Subject: People

Simon Edward Fisher (1970-)

Simon Edward Fisher studied the genes that control speech and language in England and the Netherlands in the late twentieth and early twenty-first centuries. In 2001, Fisher co-discovered the FOXP2 gene with Cecilia Lai, a gene related to language acquisition in humans and vocalization in other mammals. When damaged, the human version of the gene leads to language disorders that disrupt language and speech skills. Fisher's discovery validated the hypothesis that genes influence language, resulting in further investigations of language disorders and their heritability.

Format: Articles

Subject: People

Wilhelm Ludvig Johannsen (1857-1927)

Wilhelm Ludvig Johannsen studied plants and helped found the field of genetics, contributing methods and concepts to the study of heredity around the turn of the twentieth century in Denmark. His experiments on heredity and variation in plants influenced the methods and techniques of geneticists, and his distinction between the genotype of an organism-its hereditary disposition-and its phenotype-its observable characteristics-remains at the core of contemporary biology. Johannsen criticized biological explanations that relied on concepts such as vitalism and teleology.

Format: Articles

Subject: People

Franklin William Stahl (1929– )

Franklin William Stahl studied DNA replication, bacteriophages, and genetic recombination in the US during the mid-twentieth and early twenty-first centuries. With his colleague Matthew Meselson, Stahl performed an experiment called the Meselson-Stahl experiment, which provided evidence for a process called semi-conservative DNA replication. Semi-conservative replication is a process in which each strand of a parental DNA double helix serves as a template for newly replicated daughter strands, so that one parental strand is conserved in every daughter double helix.

Format: Articles

Subject: DNA

The Jackson Laboratory

The Roscoe B. Jackson Laboratory, known commonly in the scientific field as the Jackson Laboratory, was founded by Clarence Cook Little in May 1929. The lab has been pivotal in research with in vitro fertilization, teratomas, gene replacement therapy for birth defects, and more because its researchers have focused from the beginning on developing the mouse as a model organism. Mice were chosen by researchers at Jackson as the best available model for genetic research, and today genetically uniform strains of mice developed at the lab are used in laboratories all over the world.

Format: Articles

Subject: Organizations

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

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