Embryo Project Encyclopedia

John Langdon Down studied medicine in England in the nineteenth century and was one of the first people to develop a complete description of the disorder that would later be known as Trisomy 21, or Down Syndrome. Down Syndrome is a condition caused by the presence of an extra chromosome, which may cause a person to be born with certain impaired learning abilities and physical features such as a short neck, flattened face, and almond-shaped eyes. In 1866, Down published one of the first accounts to accurately describe people with Down Syndrome, or what he called “Mongolism,” and identify it as a distinct condition. Additionally, Down advocated for people with mental disabilities at a time when their families commonly abandoned them and medical professionals did not prioritize them. He improved the quality of care for people in the centers he worked in and increased their educational opportunities so they would be better prepared to live a normal life. Down brought increased attention to Down Syndrome, leading to the future discovery of the chromosomal anomaly that causes the disorder, and promoting a higher standard of care for people with mental disabilities.

The first successful cloning of a gaur in 2000 by Advanced Cell Technology involved the cells of two animals: an egg cell from a domestic cow and a skin cell from a gaur. The researchers extracted the egg cell from the ovary of the domestic cow and the skin cell from the skin of the gaur. First, the researchers performed nuclear transplantation on the egg cell of the cow, during which they removed the nucleus of the egg cell. The mitochondria of the egg cell remained intact inside the cell. Next, the researchers fused the egg cell of the cow and the skin cell of the gaur by applying a single electric pulse. That process resulted in a cellular complex that contained the nucleus from the gaur and the mitochondria from the cow. That cellular complex was then placed into the uterus of a different domestic cow. Once the cellular complex developed into a Day 46 fetus, researchers conducted morphological and genetic tests. The fetus then further developed into a gaur calf, which lived for forty-eight hours after birth.

In 2018, He Jiankui uploaded a series of videos to a YouTube channel titled “The He Lab” that detailed one of the first instances of a successful human birth after genome editing had been performed on an embryo using CRISPR-cas9. CRISPR-cas9 is a genome editing tool derived from bacteria that can be used to cut out and replace specific sequences of DNA. He genetically modified embryos at his lab in Shenzhen, China, to make them immune to contracting HIV through indirect perinatal transmission from their father, who was infected with the virus. HIV is a virus that attacks the immune cells of its host and weakens their ability to fight off diseases. At the time of He’s experiment, various treatments already existed at that could prevent the fetuses from contracting HIV without the need for gene surgery. Nonetheless, He’s experiment led to one of the first successful births of fetuses resulting from genetically modified embryos. He kept his experiment secret until he uploaded the videos announcing the birth of the fetuses, born as two twin girls. The experiment discussed in the videos was successful, but many scientists criticized the experiment due to ethical concerns with the way He conducted it.

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.

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.

Michael R. Harrison worked as a pediatric surgeon in the US throughout the late-twentieth century and performed many fetal surgeries, including one of the first successful surgeries on a fetus in utero, or while it is still in its gestational carrier’s body, also called open fetal surgery. A fetus is an organism developing inside of the uterus that is anywhere from eight weeks old to birth. Harrison hypothesized that open fetal surgery could correct developmental defects that may become fatal to the fetus at birth. After years of research, Harrison and his colleagues at the University of California, San Francisco, in San Francisco, California, performed surgery on the fetus of a woman in her seventh month of pregnancy to correct the fetus’s developmental defects. The surgery was successful, as the fetus developed into a healthy child. Harrison’s work led to advancements in fetal treatment techniques, such as a method to conduct open fetal surgery that will not harm the fetus or pregnant woman, as well as the establishment of one of the first fetal treatment centers in the US.

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.

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.

Barbara Seaman was a writer, investigator, and advocate for female healthcare rights during the twentieth century in the United States. Seaman’s work addressed the gendered prejudice she observed in the US healthcare system and argued that women of the 1960s lacked the proper tools to make informed decisions about pregnancy care, breastfeeding, childbirth, and contraception. Seaman wrote the book The Doctor’s Case Against the Pill in 1969 to expose the dangers in prescribing and consuming high doses of estrogen in the form of birth control. Seaman’s objective was to expose what she described as pharmaceutical companies’ drive for profit over safety. Her reporting helped provide a voice to many women who lacked proper health information and helped improve the standard of healthcare that women received in the US. Through her publications and activism, Seaman brought women’s healthcare to the public’s attention and contributed to the feminist and women’s healthcare movements of the twentieth century.

Roger Wolcott Sperry studied the function of the nervous system in the US during the twentieth century. He studied split-brain patterns in cats and humans that result from separating the two hemispheres of the brain by cutting the corpus callosum, the bridge between the two hemispheres of the brain. He found that separating the corpus callosum the two hemispheres of the brain could not communicate and they performed functions as if the other hemisphere did not exist. Sperry studied optic nerve regeneration through which he developed the chemoaffinity hypothesis. The chemoaffinity hypothesis stated that axons, the long fiber-like process of neurons, connect to their target cells through special chemical markers. This challenged the previously accepted resonance principle of neuronal connection. Sperry shared the 1981 Nobel Prize in Physiology or Medicine with David Hubel and Torsten Wiesel.