Embryo Project Encyclopedia Articles

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.

In the early twentieth century, Paul Kammerer conducted a series of experiments to demonstrate that organisms could transmit characteristics acquired in their lifetimes to their offspring. In his 1809 publication, zoologist Jean-Baptiste Lamarck had hypothesized that living beings can inherit features their parents or ancestors acquired throughout life. By breeding salamanders, as well as frogs and other organisms, Kammerer tested Lamarck's hypothesis in an attempt to provide evidence for Lamarck's theory of the inheritance of acquired characteristics. In particular, Kammerer argued that the inheritance of acquired characteristics caused species to evolve, and he claimed that his results provided an explanation for evolutionary processes through developmental phenomena.

In the first decade of the twentieth century, Paul Kammerer, a zoologist working at the Vivarium in Vienna, Austria, conducted research on developmental mechanisms, including a series of breeding experiments on toads (Alytes obstetricans). Kammerer claimed that his results demonstrated that organisms could transmit acquired characteristics to their offspring. To explain how evolution occurred, biologist Jean-Baptiste Lamarck in France suggested in his 1809 book that offspring inherited the features their ancestors acquired throughout the lives of those ancestors, a process termed the inheritance of acquired characteristics. Kammerer conducted breeding experiments to test the theory of inheritance of acquired characteristics, which he said described the mechanics of evolution. Additionally, Kammerer's experiments aimed at explaining how development shaped evolutionary processes.

Friedrich Leopold August Weismann published Das
Keimplasma: eine Theorie der Vererbung (The Germ-Plasm: a
Theory of Heredity, hereafter The Germ-Plasm) while
working at the University of Freiburg in Freiburg, Germany in 1892.
William N. Parker, a professor in the University College of South
Wales and Monmouthshire in Cardiff, UK, translated The
Germ-Plasm into English in 1893. In The Germ-Plasm,
Weismann proposed a theory of heredity based on the concept of the
germ plasm, a substance in the germ cell that carries hereditary information. The
Germ-Plasm compiled Weismann's theoretical work and analyses of
other biologists' experimental work in the 1880s, and it provided a
framework to study development, evolution and heredity. Weismann
anticipated that the germ-plasm theory would enable researchers to
investigate the functions and material of hereditary substances.

In the early twentieth century, Paul Kammerer, a zoologist working at the Vivarium in Vienna, Austria, experimented on sea-squirts (Ciona intestinalis). Kammerer claimed that results from his experiments demonstrated that organisms could transmit characteristics that they had acquired in their lifetimes to their offspring. Kammerer conducted breeding experiments on sea-squirts and other organisms at a time when Charles Darwin's 1859 theory of evolution lacked evidence to explain how offspring inherited traits from their parents. In 1809, zoologist Jean-Baptiste Lamarck in France theorized that living beings can inherit the features their parents or ancestors acquired during those ancestor's lifetime, a theory called the inheritance of acquired characteristics. Kammerer attempted to provide evidence for the theory of inheritance of acquired characteristics, which constituted, he argued, the mechanics of evolution. Kammerer claimed that his results could explain evolutionary processes through developmental phenomena.

The Y-chromosome is one of a pair of chromosomes that determine the genetic sex of individuals in mammals, some insects, and some plants. In the nineteenth and twentieth centuries, the development of new microscopic and molecular techniques, including DNA sequencing, enabled scientists to confirm the hypothesis that chromosomes determine the sex of developing organisms. In an adult organism, the genes on the Y-chromosome help produce the male gamete, the sperm cell. Beginning in the 1980s, many studies of human populations used the Y-chromosome gene sequences to trace paternal lineages. In mammals, the Y-chromosomes contain the master-switch gene for sex determination, called the sex-determining region Y, or the SRY gene in humans. In most normal cases, if a fertilized egg cell, called a zygote, has the SRY gene, the zygote develops into an embryos that has male sex traits. If the zygote lacks the SRY gene or if the SRY gene is defective, the zygote develops into an embryo that has female sex traits.

Barbara McClintock conducted experiments on corn (Zea mays) in the United States in the mid-twentieth century to study the structure and function of the chromosomes in the cells. McClintock researched how genes combined in corn and proposed mechanisms for how those interactions are regulated. McClintock received the Nobel Prize in Physiology or Medicine in 1983, the first woman to win the prize without sharing it. McClintock won the award for her introduction of the concept of transposons, also called jumping genes. McClintock conceptualized some genetic material as not static in structure and order, but as subject to re-arrangement and may be altered during development.