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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 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

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

“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

“Invasive and Non-invasive Methods for the Diagnosis of Endometriosis” (2010), by Albert L. Hsu, Izabella Khachikyan, and Pamela Stratton

In 2010, Albert L. Hsu, Izebella Khchikyan, and Pamela Stratton published “Invasive and Non-invasive Methods for the Diagnosis of Endometriosis,” henceforth “Methods for the Diagnosis of Endometriosis,” in Clinical Obstetrics and Gynecology. In the article, the authors describe how specific types of endometriotic lesions appear in the body and evaluate five methods for diagnosing endometriosis. Endometriosis is the growth of endometrium, the tissue that normally lines the inside of the uterus, outside of the uterus.

Format: Articles

Subject: Publications

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

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 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

Ethics of Designer Babies

A designer baby is a baby genetically engineered in vitro for specially selected traits, which can vary from lowered disease-risk to gender selection. Before the advent of genetic engineering and in vitro fertilization (IVF), designer babies were primarily a science fiction concept. However, the rapid advancement of technology before and after the turn of the twenty-first century makes designer babies an increasingly real possibility.

Format: Articles

Subject: Ethics, 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

“Pregnancy Established in an Infertile Patient After Transfer of a Donated Embryo Fertilized In Vitro” (1983), by Alan Trounson, John Leeton, Mandy Besanko, Carl Wood, and Angelo Conti

In 1983, researchers Alan Trounson, John Leeton, Carl Wood, Mandy Besanko, and Angelo Conti published the article “Pregnancy Established in an Infertile Patient After Transfer of a Donated Embryo Fertilized In Vitro” in The British Medical Journal. In the article, the authors discuss one of the first successful experiments using in vitro fertilization, or IVF, with the use of a human donor embryo at the Monash University and Queen Victoria Medical Center in Melbourne, Australia.

Format: Articles

Subject: Publications, Publications, Reproduction, Processes

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

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

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.

Format: Articles

Subject: Experiments

Oral Glucose Tolerance Test for Gestational Diabetes

In the twentieth century, researchers developed the oral glucose tolerance test, or OGTT, as a method to diagnose different types of diabetes, a medical condition that causes blood sugar levels to become abnormally high. During the test, a healthcare provider measures a person’s blood sugar levels before and after the person consumes a predetermined amount of glucose solution. While not exclusively used for pregnant women, an OGTT may test for gestational diabetes which, according to the International Diabetes Federation, affected one in six pregnancies worldwide in 2019.

Format: Articles

Subject: Technologies, Reproduction, Experiments

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.

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

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

Management of Myelomeningocele Study Clinical Trial (2003–2010)

From February 2003 to December 2010, researchers of the Management of Myelomeningocele Study, or MOMS, clinical trial compared the safety and efficacy of different treatments for a specific type of spina bifida, called myelomeningocele. Myelomeningocele, the most frequent and severe form of spina bifida, is a condition in which the bony spinal column does not develop correctly, which causes an opening of the spine, exposure of the spinal cord, and formation of a small sac containing cerebrospinal fluid.

Format: Articles

Subject: Experiments

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

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

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

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