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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

Subject: Theories, Processes

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

“The Standardization of Terminology of Female Pelvic Organ Prolapse and Pelvic Floor Dysfunction” (1996), Richard C. Bump, Anders Mattiasson, Kari Bø, Linda P. Brubaker, John O.L. DeLancey, Peter Klarskov, Bob L. Shull, Anthony R.B. Smith

In 1996, a team of researchers associated with the International Continence Society published “The Standardization of Terminology of Female Pelvic Organ Prolapse and Pelvic Floor Dysfunction” in American Journal of Obstetrics and Gynecology. Pelvic organ prolapse is characterized by the descent of the pelvic organs into the lower portion of the pelvis and is often caused by a weakening of the muscles and ligaments that normally hold the organs in place.

Format: Articles

Subject: Publications, Disorders

Leon Chesley (1908-2000)

Leon Chesley studied hypertension, or high blood pressure, in pregnant women during the mid-twentieth century. Chesley studied preeclampsia and eclampsia, two hypertensive disorders found in approximately five percent of all US pregnancies. In New Jersey and New York, Chesley devoted over forty years to researching preeclampsia and eclampsia. Chesley conducted several long-term studies using the same group of women beginning from their pregnancies.

Format: Articles

Subject: People, Reproduction

Robert Geoffrey Edwards (1925-2013)

Robert Geoffrey Edwards worked with Patrick Christopher Steptoe to develop in-vitro fertilization (IVF) techniques during the 1960s and 1970s in the United Kingdom. Louise Brown, the world' s first "test-tube baby," was born as a result of Edwards and Steptoe's IVF techniques in 1978, and since then more than four million children have been born using IVF techniques. Publicity and controversy accompanied Edwards and Steptoe's work as conservative religious institutions expressed concern over the morality of the IVF procedure.

Format: Articles

Subject: People, Reproduction

Amniocentesis

Amniocentesis is a test used for prenatal diagnosis of inherited diseases, Rh incompatibility, neural tube defects, and lung maturity. Normally performed during the second trimester of a pregnancy, this invasive procedure allows the detection of health problems in the fetus as early as fifteen weeks gestation. Although amniocentesis does carry some significant risks, the medical community commonly accepts it as a safe and useful procedure.

Format: Articles

Subject: Technologies, Reproduction

Chorionic Villus Sampling

Chorionic villus sampling (CVS) is a test used for prenatal diagnosis. Safe to perform at an earlier stage in pregnancy than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman's last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soon after the embryonic stage of development.

Format: Articles

Subject: Technologies

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

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

Ooplasmic Transfer Technology

Ooplasmic transfer, also called cytoplasmic transfer, is an outside the body, in vitro fertilization (IVF) technique. Ooplasmic transfer in humans (Homo sapiens) is similar to in vitro fertilization (IVF), with a few additions. IVF is the process in which doctors manually combine an egg and sperm cells in a laboratory dish, as opposed to artificial insemination, which takes place in the female's body. For ooplasmic transfer, doctors withdraw cytoplasm from a donor's oocyte, and then they inject that cytoplasm with sperm into a patient's oocyte.

Format: Articles

Subject: Technologies

Human Embryonic Stem Cells

Stem cells are undifferentiated cells that are capable of dividing for long periods of time and can give rise to specialized cells under particular conditions. Embryonic stem cells are a particular type of stem cell derived from embryos. According to US National Institutes of Health (NIH), in humans, the term "embryo" applies to a fertilized egg from the beginning of division up to the end of the eighth week of gestation, when the embryo becomes a fetus. Between fertilization and the eighth week of gestation, the embryo undergoes multiple cell divisions.

Format: Articles

Subject: Processes, Reproduction

“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

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

Harald zur Hausen (1936–)

Harald zur Hausen studied viruses and discovered that certain strains of the human papilloma virus (HPV), a sexually transmitted disease, can cause cervical cancer, in Europe during the twentieth and twenty-first centuries. Zur Hausen spent his research career identifying the viruses that cause diseases, particularly cancer-causing viruses (oncoviruses). He primarily focused on HPV and cervical cancer. Zur Hausen hypothesized that HPV was cancerous and discovered that two strains, HPV 16 and 18, caused cervical cancer.

Format: Articles

Subject: People

Tay-Sachs Disease

In 1881 British opthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child's physical and mental retardation. This cherry-red spot is a characteristic that would eventually come to be associated with metabolic neurological disorders like Sandhoff, GM-1, Niemann-Pick, and, to the credit of Tay, the lysosomal storage disorder known as Tay-Sachs disease.

Format: Articles

Subject: Disorders

Fetal Alcohol Syndrome (FAS)

The concept Fetal Alcohol Syndrome (FAS) refers to a set of birth defects that occur in children born to mothers who abused alcohol during pregnancy. The alcohol-induced defects include pre- and post-natal growth deficiencies, minor facial abnormalities, and damage to the developing central nervous system (CNS).

Format: Articles

Subject: Disorders

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

"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

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

“Studies on the Chemical Nature of the Substance Inducing Transformation of Pneumococcal Types: Induction of Transformation by a Desoxyribonucleic Acid Fraction Isolated from Pneumococcus Type III” (1944) by Oswald Avery, Colin MacLeod and Maclyn McCarty

In 1944, Oswald Avery, Colin MacLeod, and Maclyn McCarty published an article in which they concluded that genes, or molecules that dictate how organisms develop, are made of deoxyribonucleic acid, or DNA. The article is titled “Studies on the Chemical Nature of the Substance Inducing Transformation of Pneumococcal Types: Induction of Transformation by a Desoxyribonucleic Acid Fraction Isolated from Pneumococcus Type III,” hereafter “Transformation.” The authors isolated, purified, and characterized genes within bacteria and found evidence that those genes were made of DNA and not protein.

Format: Articles

Subject: Publications