Embryo Project Encyclopedia

In 2007, Ishola Agbaje, Deirdre Rogers, Carmel McVicar, Neil McClure, Albert Atkinson, Con Mallidis, and Sheena Lewis published “Insulin Dependent Diabetes Mellitus: Implications for Male Reproductive Function,” hereby “Diabetes Mellitus: Implications,” in the journal Human Reproduction. In their article, the authors explore the effects of elevated blood sugar in the form of diabetes mellitus on the quality of male sperm. When investigating possible fertility issues, fertility specialists often study semen, the male reproductive fluid that contains sperm cells to detect changes in sperm count, movement, and structure. In “Diabetes Mellitus: Implications,” the authors use both conventional semen analysis and technical molecular methods to assess the quality of sperm from diabetic and non-diabetic men. The authors found that men with diabetes had higher levels of DNA damage within their sperm and highlighted a need for additional research on the link between diabetes and male reproductive health.

In 1861, William John Little published, “On The Influence of Abnormal Parturition, Difficult Labors, Premature Birth, and Asphyxia Neonatorum, on the Mental and Physical Condition of the Child, Especially in Relation to Deformities,” hereafter “Abnormal Parturition,” in the Transactions of the Obstetrical Society of London. In the article, Little discussed the causes and types of what he refers to as abnormal births, and theorized how those births affect an infant’s likelihood of exhibiting a deformity. Little defined abnormal births as those involving an atypical maternal or fetal presentation, such as a slow birthing process or a fetus exiting the birth canal feet first rather than head first. In his article, Little published one of the first definitional frameworks to describe a condition causing rigidity and stiffness in the limbs that is often associated with birth-related trauma, which was then called Little’s disease, but is modernly known as spastic Cerebral Palsy.

The March of Dimes Foundation, or the March of Dimes, is a non-profit organization headquartered in Arlington, Virginia, focused on the health of pregnant women and infants in the US. Former United States president Franklin Delano Roosevelt founded the March of Dimes, then called the National Foundation for Infantile Paralysis, in 1938 to address polio. Polio is a viral illness that infects the spinal cord and may lead to paralysis. Roosevelt contracted polio in 1921, which left him permanently paralyzed from the waist down. During the 1960s, after scientists introduced polio vaccines, March of Dimes shifted its focus to prevent preterm birth and birth defects. As a non-profit organization, March of Dimes provides community service, funds for research, and efforts to educate the public about preterm birth and birth defects. While March of Dimes’ original goal was to help reduce the spread of polio in the US, it was also one of the first organizations to lead a campaign to prevent birth defects and infant mortality.

William John Little was one of the first orthopedic surgeons to research congenital malformations and their causes in the nineteenth century and presented preliminary research on a condition modernly known as cerebral palsy, a condition of varying severity that affects a person’s ability to move. Little worked throughout the United Kingdom for the majority of the time he practiced medicine, and eventually founded one of the first orthopedic infirmaries, the Royal Orthopedic Hospital in London, England. Throughout his career, Little studied congenital malformations, which are medical conditions inherited before birth, as well as how certain medical circumstances during delivery affect the neonate. In 1861, he described a condition with motor, behavioral, and cognitive irregularities in neonates, linked with oxygen deprivation during birth. Little’s research on that condition, originally called Little’s disease, and modernly, spastic cerebral palsy, was one of the first accounts of cerebral palsy in infants.

In 1616 in Padua, Italy, Fortunio Liceti, a professor of natural philosophy and medicine, wrote and published the first edition of De Monstruorum Causis, Natura et Differentiis (On the Reasons, Nature, and Differences of Monsters), hereafter De monstruorum. In De monstruorum, Liceti chronologically documented cases of human and animal monsters from antiquity to the seventeenth century. During the seventeenth century, many people considered such monsters as frightening signs of evil cursed by spiritual or supernatural entities. Liceti categorized monsters based on their potential causes, several of which he claimed were unrelated to the supernatural. Historians later noted that some documented monsters were infants with birth defects. In De monstruorum, Liceti elevated the status of monsters to potential subjects of scientific inquiry and provided an early model for the study of birth defects, a field later called teratology.

Carol Widney Greider studied telomeres and telomerase in the US at the turn of the twenty-first century. She worked primarily at the University of California, Berkeley in Berkeley, California.
She received the Nobel Prize in Physiology or Medicine in 2009, along with Elizabeth Blackburn and Jack Szostak, for their research on telomeres and telomerase. Telomeres are repetitive sequences of
DNA at the ends of chromosomes that protect chromosomes from tangling, and they provide some protection from mutations. Greider also studied telomerase, an enzyme that repairs telomeres. Without telomeres, chromosomes are subject to mutations that can lead to
cell death, and without telomerase, cells might not reproduce fast enough during embryonic development. Greider's research on telomeres helped scientists explain how chromosomes function within cells.

The Spemann-Mangold organizer, also known as the Spemann organizer, is a cluster of cells in the developing embryo of an amphibian that induces development of the central nervous system. Hilde Mangold was a PhD candidate who conducted the organizer experiment in 1921 under the direction of her graduate advisor, Hans Spemann, at the University of Freiburg in Freiburg, German. The discovery of the Spemann-Mangold organizer introduced the concept of induction in embryonic development. Now integral to the field of developmental biology, induction is the process by which the identity of certain cells influences the developmental fate of surrounding cells. Spemann received the Nobel Prize in Medicine in 1935 for his work in describing the process of induction in amphibians. The Spemann-Mangold organizer drew the attention of embryologists, and it spurred numerous experiments on the nature of induction in many types of developing embryos.

During the twentieth century in the United States, Alfred Day Hershey studied phages, or viruses that infect bacteria, and experimentally verified that genes were made of deoxyribonucleic acid, or DNA. Genes are molecular, heritable instructions for how an organism develops. When Hershey started to study phages, scientists did not know if phages contained genes, or whether genes were made of DNA or protein. In 1952, Hershey and his research assistant, Martha Chase, conducted phage experiments that convinced scientists that genes were made of DNA. For his work with phages, Hershey shared the 1969 Nobel Prize in Physiology or Medicine with Max Delbrück and Salvador Luria. Hershey conducted experiments with results that connected DNA to the function of genes, thereby changing the way scientists studied molecular biology and the development of organisms.

Telomerase is an enzyme that regulates the lengths of telomeres in the cells of many organisms, and in humans it begins to function int the early stages of embryonic development. Telomeres are repetitive sequences of DNA on the ends of chromosomes that protect chromosomes from sticking to each other or tangling. In 1989, Gregg Morin found that telomerase was present in human cells. In 1996, Woodring Wright and his team examined human embryonic cells and found that telomerase was active in them. Scientists manipulate telomerase in cells to give cells the capacity to replicate infinitely. Telomerase is also necessary for stem cells to replicate themselves and to develop into more specialized cells in embryos and fetuses.

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. In 1959, the researchers published their results in a paper titled 'The Genetic Control and Cytoplasmic Expression of 'Inducibility' in the Synthesis of b-galactosidase by E. coli'. When they compared mutated strains of E. coli to a normal strain, Pardee, Jacob, and Monod identified the abnormal regulation processes and enzymes produced by the mutated genes. The results showed how enzymes break down the molecules that the bacteria ingested. The PaJaMas experiments uncovered some of the molecular mechanisms that regulate how some genes yield enzymes in many species.