Embryo Project Encyclopedia

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.

David Michael Rorvik is a science journalist who publicized advancements in the field of reproductive medicine during the late twentieth century. Rorvik wrote magazine articles and books in which he discussed emerging methods and technologies that contributed to the progression of reproductive health, including sex determination, in vitro fertilization, and human cloning. During that time, those topics were controversial and researchers often questioned Rorvik’s work for accuracy. Rorvik contributed to the field of reproductive medicine by communicating methods of reproductive intervention and contributing to the controversy around new developmental medicine technologies.

In 2005, Ernest McCulloch and James Till published the article “Perspectives on the Properties of Stem Cells,” which discusses the various properties and future possibilities for the use of stem cells. Stem cells are unspecialized cells that can develop into several different cell types. In the article published in the journal Nature on 1 October 2005, the authors say they wrote the article to dispel misconceptions about what stem cells are, what they do, address some controversies surrounding stem cells, and discuss potential uses of stem cells. In the article, McCulloch and Till reveal how stem cell research has revolutionized cancer treatment as well as set the stage for future embryonic and adult stem cell research.

Arnaud Fauconnier and Charles Chapron published “Endometriosis and Pelvic Pain: Epidemiological Evidence of the Relationship and Implications,” henceforth “Endometriosis and Pelvic Pain,” in the journal Human Reproduction Update in 2005. In that article, the researchers studied the relationship between pelvic pain and endometriosis. Endometriosis is the growth of endometrium, or tissue that normally lines the inside of the uterus, outside of the uterus. The authors review medical studies in order to determine how much evidence exists that endometriosis causes chronic pelvic pain symptoms. Then, the authors describe specific relationships between different types of endometriotic lesions and pain symptoms. By establishing specific relationships between pain and endometriosis, “Endometriosis and Pelvic Pain” helped healthcare professionals diagnose and treat pelvic pain related to endometriosis.

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. Mammography is an X-ray technique used to detect abnormalities in breast tissue, such as breast cancer, which affects about twelve percent of women in the world and has a significant risk of mortality. The authors concluded that mammography screenings reduced breast cancer mortality, but resulted in problems such as overdiagnosis and overtreatment of screened women. The article Screening for Breast Cancer with Mammography contributed to the then ongoing controversy about the usefulness of mammography and provided accessible information about mammograms in seven languages.

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.

Thomson, et al. v. Thompson, et al. was a lawsuit filed in the United States District Court for the District of Columbia on 8 May 2001 as Civil Action Number 01-CV-0973. This lawsuit was filed in hopes of gaining injunctive relief against a moratorium on the federal funding of stem cell research. The plaintiffs in the case were seven prominent scientists who performed embryonic stem cell research and three patients: James Thomson, Roger Pedersen, John Gearhart, Douglas Melton, Dan Kaufman, Alan Trounson, Martin Pera, Christopher Reeve, James Cordy, and James Tyree. The suit was filed against Tommy G. Thompson in his official capacity as Secretary of the Department of Health and Human Services; Ruth Kirschstein in her official capacity as Acting Director of the National Institutes of Health; the Department of Health and Human Services (HHS); and the National Institutes of Health (NIH). The plaintiffs argued that by illegally delaying and withholding federal funds for stem cell research, the defendants were causing irreparable harm to research and development of potential therapies for patients.There was also concern about potentially preventing young researchers from entering the field, and restricting the sharing of discoveries between scientists that federal funding of scientific research fosters.

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. Half of the women received two annual breast examinations that involved mammography, a breast exam, and an interview. The rest of the women were not invited for annual examinations. After follow up, the researchers found that of the women who received the examinations, thirty percent fewer died from breast cancer than the women who did not receive any examinations. The HIP trial was one of the first large-scale clinical trials to provide evidence that mammography screenings helped prevent breast cancer deaths in women.

In 1987 Rebecca Louise Cann, Mark Stoneking, and Allan Charles Wilson published Mitochondrial DNA and Human Evolution in the journal Nature. The authors compared mitochondrial DNA from different human populations worldwide, and from those comparisons they argued that all human populations had a common ancestor in Africa around 200,000 years ago. Mitochondria DNA (mtDNA) is a small circular genome found in the subcellular organelles, called mitochondria. Mitochondria are organelles found outside of the nucleus in the watery part of the cell, called cytoplasm, of most complex cells (eukaryotes). Cann, Stoneking and Wilson collected mtDNA from 147 individuals from five different human geographical populations. Cann, Stoneking, and Wilson used mtDNA sequences to study the genetic differences and migration patterns of the human population through female inheritance. Mammals inherit mitochondria and mtDNA from their mothers through the egg cell (oocyte), and mitochondria are responsible for several maternally inherited diseases.

Mitochondrial DNA (mtDNA) is located outside the nucleus in the liquid portion of the cell (cytoplasm) inside cellular organelles called Mitochondria. Mitochondria are located in all complex or eukaryotic cells, including plant, animal, fungi, and single celled protists, which contain their own mtDNA genome. In animals with a backbone, or vertebrates, mtDNA is a double stranded, circular molecule that forms a circular genome, which ranges in size from sixteen to eighteen kilo-base pairs, depending on species. Each mitochondrion in a cell can have multiple copies of the mtDNA genome. In humans, the mature egg cell, or oocyte, contains the highest number of mitochondria among human cells, ranging from 100,000 to 600,000 mitochondria per cell, but each mitochondrion contains only one copy of mtDNA. In human embryonic development, the number of mitochondria, the content of mtDNA in each mitochondrion, and the subsequent mtDNA activity affects the production of the oocytes, fertilization of the oocytes, and early embryonic growth and development.