Embryo Project Encyclopedia Articles

William Thornton Mustard was a surgeon in Canada during the twentieth century who developed surgical techniques to treat children who had congenital heart defects. Mustard has two surgeries named after him, both of which he helped to develop. The first of these surgeries replaces damaged or paralyzed muscles in individuals who have polio, a virus that can cause paralysis. The other technique corrects a condition called the transposition of the great arteries (TGA) that is noticed at birth. Surgeons worldwide adopted that technique, leading to increased survival rates in infants afflicted with the condition. Mustard also published over 100 articles on congenital heart defects, surgical techniques, and the preparation of an artificial heart lung machine. Mustard helped perform the first blood transfusion of a newborn whose red blood cells (RBCs) had degraded, a condition called hemolytic anemia. Throughout his career, Mustard developed surgical techniques that increased the survival rates of infants and children with congenital and developmental disorders.

Ignaz Philipp Semmelweis demonstrated that the use of disinfectants could reduce the occurrence of puerperal fever in patients in nineteenth century Austria. Puerperal fever is a bacterial infection that can occur in the uterine tract of women after giving birth or undergoing an abortion. Semmelweis determined that puerperal fever is contagious and argued that the unhygienic practices of physicians, like examining patients after performing autopsies, caused the spread of puerperal fever. He showed that if physicians washed their hands with a chloride solution before they attended patients, then they prevented those patients from developing puerperal fever. Despite being widely criticized during his lifetime, Semmelweis's research on the contagiousness of puerperal fever set a precedent for many scientists, and contributed to preventing the spread of puerperal fever.

Transposition of the great arteries or TGA is a potentially fatal congenital heart malformation where the pulmonary artery and the aorta are switched. The switch means that the aorta, which normally carries oxygenated blood, carries deoxygenated blood. There are two types of the malformation, d-TGA where no oxygen reaches the body and l-TGA where some oxygenated blood circulates. In the US, the Centers for Disease Control estimate that about 1,901 infants are born each year with TGA, or about one for every 2,000 births. Throughout history, physicians classified TGA as a condition that causes blue babies and hypothesized it was a fatal condition. With the development of corrective surgeries, studies on the causes of TGA, and improved prenatal diagnosis have allowed for the survival rate for those with TGA to approach almost one hundred percent.

Adib Jatene in Brazil was the first surgeon to successfully perform the arterial switch operation in 1975. The operation corrected a heart condition in infants called transposition of the great arteries (TGA). Left untreated, infants with TGA die, as their blood cannot supply oxygen to their bodies. Jatene’s operation became widely used to correct the condition. Aside from medical research, Jatene worked for years in politics and education, serving as Brazil’s minister of health and teaching thoracic surgery at the University of São Paulo.

The Sex-determining Region Y (Sry in mammals but SRY in humans) is a gene found on Y chromosomes that leads to the development of male phenotypes, such as testes. The Sry gene, located on the short branch of the Y chromosome, initiates male embryonic development in the XY sex determination system. The Sry gene follows the central dogma of molecular biology; the DNA encoding the gene is transcribed into messenger RNA, which then produces a single Sry protein. The Sry protein is also called the testis-determining factor (TDF), a protein that initiates male development in humans, placental mammals, and marsupials. The Sry protein is a transcription factor that can bind to regions of testis-specific DNA, bending specific DNA and activating or enhancing its abilities to promote testis formation, marking the first step towards male, rather than female, development in the embryo.

The arterial switch operation, also called the Jatene procedure, is an operation in which surgeons redirect the flow of blood through abnormal hearts. In 1975, Adib Jatene conducted the first successful arterial switch operation on a human infant. The arterial switch operation corrects a condition called transposition of the great arteries, abbreviated TGA, also called transposition of the great vessels, abbreviated TGV. TGA occurs when the pulmonary artery, which supplies deoxygenated blood to the lungs, and the aorta, which takes oxygenated blood to the body, are switched, or transposed. The switch between the aorta and pulmonary artery results in dangerously low levels of oxygen, a condition called cyanosis, in newborn infants, which causes them to die if a surgeon does not correct it.

Studies in Spermatogenesis is a two volume book written by Nettie Maria Stevens, and published by the Carnegie Institution of Washington in 1905 and 1906. In the books Stevens explains the research she conducted on chromosomal sex determination in the sperm and egg cells of insect species while at Bryn Mawr College, near Philadelphia, Pennsylvania. Studies in Spermatogenesis described early examples of chromosomal XY sex-determination.

By 2011, researchers in the US had established that non-invasive blood tests can accurately determine the gender of a human fetus as early as seven weeks after fertilization. Experts predicted that this ability may encourage the use of prenatal sex screening tests by women interested to know the gender of their fetuses. As more people begin to use non-invasive blood tests that accurately determine the sex of the fetus at 7 weeks, many ethical questions pertaining to regulation, the consequences of gender-imbalanced societies, and altered meanings of the parent-child relationship.

Ethical Issues in Human Stem Cell Research: Executive Summary was published in September 1999 by The US National Bioethics Advisory Commission in response to a national debate about whether or not the US federal government should fund embryonic stem cell research. Ethical Issues in Human Stem Cell Research recommended policy to US President William Clinton's administration, which advocated for federal spending on the use of stem research on stem cells that came from embryos left over from in vitro fertilization (IVF) fertility treatments. Although NBAC's proposals never became legislation, the report helped shape public, private, and international discourse on stem cell research policy.

In the late 1980s, Peter Goodfellow in London, UK led a team of researchers who showed that the SRY gene in humans codes a protein that causes testes to develop in embryos. During this time, scientists in London and Paris, including Peter Koompan and John Gubbay, proposed that SRY was the gene on the Y chromosome responsible for encoding the testis-determining factor (TDF) protein. The TDF is a protein that initiates embryo to develop male characteristics. Looking for evidence that SRY was the TDF, Goodfellow and colleagues examined people who were anatomically female, but whose cells had Y chromosomes. Females normally have cells with two X sex chromosomes (XX), while males normally have cells with one X and one Y chromosome (XY). Goodfellow's team discovered that individuals with Y chromosomes developed as female instead of as male due to inactive SRY sequences on the Y chromosome. Goodfellow and colleagues compiled the results of their experiment in a paper titled Genetic Evidence Equating SRY and the Testis-Determining Factor in 1990. Their results showed that the SRY gene is necessary for male characteristics to develop in embryos, and that SRY encodes the TDF protein.