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.

The Mustard Operation is a surgical technique to correct a heart condition called the transposition of the great arteries (TGA). TGA is a birth defect in which the placement of the two arteries, the pulmonary artery, which supplies deoxygenated blood to the lungs, and the aorta, which takes oxygenated blood to the body are switched. William Thornton Mustard developed the operation later named for him and in 1963 operated on an infant with TGA, and ameliorated the condition, at the Hospital for Sick Children in Toronto, Canada. Afterwards, the Mustard Operation became the primary form of corrective surgery for TGA, until the arterial switch operation largely replaced the Mustard Operation by the late 1990s. The Mustard Operation enabled surgeons to correct TGA in infants born with the life-threatening anomaly, increasing their life spans and quality of life.

Mary-Claire King studied genetics in the US in the twenty-first century. King identified two genes associated with the occurrence of breast cancer, breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2). King showed that mutated BRCA1 and BRCA2 genes cause two types of reproductive cancer, breast and ovarian cancer. Because of King’s discovery, doctors can screen women for the inheritance of mutated BRCA1 and BRCA2 genes to evaluate their risks for breast and ovarian cancer. King also demonstrated the genetic similarities between chimpanzees and humans and helped to identify victims of human rights abuses using genetics. King's identification of the BRCA genes and their relationship to breast and ovarian cancer, both reproductive cancers, has allowed physicians to screen thousands of women for the genes and for those women to choose to undergo preventative cancer treatment to lower their risk of cancer.

Stafford Leak Warren studied nuclear medicine in the United States during the twentieth century. He used radiation to make images of the body for diagnosis or treatment and developed the mammogram, a breast imaging technique that uses low-energy X-rays to produce an image of breasts. Mammograms allow doctors to diagnose breast cancer in its early and most treatable stages. Warren was also a medical advisor to the Manhattan Project, the US government’s program to develop an atomic bomb during World War II, and he was responsible for the health and safety aspects of the Trinity Test, the first atomic bomb test in the US. Warren’s invention of the mammogram has allowed physicians to diagnose breast cancer in women during its most treatable stages, preventing deaths due to breast cancer.

In 2013, George Church and his colleagues at Harvard University in Cambridge, Massachusetts published RNA-Guided Human Genome Engineering via Cas 9, in which they detailed their use of RNA-guided Cas 9 to genetically modify genes in human cells. Researchers use RNA-guided Cas 9 technology to modify the genetic information of organisms, DNA, by targeting specific sequences of DNA and subsequently replacing those targeted sequences with different DNA sequences. Church and his team used RNA-guided Cas 9 technology to edit the genetic information in human cells. Church and his colleagues also created a database that identified 190,000 unique guide RNAs for targeting almost half of the human genome that codes for proteins. In RNA-Guided Human Genome Engineering via Cas 9, the authors demonstrated that RNA-guided Cas 9 was a robust and simple tool for genetic engineering, which has enabled scientists to more easily manipulate genomes for the study of biological processes and genetic diseases.

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.

Robert Guthrie developed a method to test infants for phenylketonuria (PKU) in the United States during the twentieth century. PKU is an inherited condition that causes an amino acid called phenylalanine to build to toxic levels in the blood. Untreated, PKU causes mental disabilities. Before Guthrie’s test, physicians rarely tested infants for PKU and struggled to diagnosis it. Guthrie’s test enabled newborns to be quickly and cheaply screened at birth and then treated for PKU if necessary, preventing irreversible neurological damage. After developing the test, Guthrie traveled the world to advocate for mass screening for PKU in newborns. Along with his PKU test, Guthrie developed newborn screens for maple syrup urine disease and for galactosemia. Guthrie’s test for PKU and campaign for newborn screening led to the early diagnoses of PKU in thousands of infants, preventing those infants from developing mental disabilities.

The Guthrie test, also called the PKU test, is a diagnostic tool to test infants for phenylketonuria a few days after birth. To administer the Guthrie test, doctors use Guthrie cards to collect capillary blood from an infant’s heel, and the cards are saved for later testing. Robert Guthrie invented the test in 1962 in Buffalo, New York. Phenylketonuria (PKU) is a congenital birth abnormality in which toxic levels of the amino acid phenylalanine build up in the blood, a process that affects the brains in untreated infants. Guthrie’s test detects phenylalanine in the blood of newborns, enabling for early diagnosis of PKU. Early diagnoses of PKU prevent the development of mental disabilities in the thousands of individuals affected each year.

In 2015, Junjiu Huang and his colleagues reported their attempt to enable CRISPR/cas 9-mediated gene editing in nonviable human zygotes for the first time at Sun Yat-Sen University in Guangzhou, China. Their article, CRISPR /Cas9-mediated Gene Editing in Human Tripronuclear Zygotes, was published in Protein and Cell. Nonviable zygotes are sperm-fertilized eggs that cannot develop into a fetus. Researchers previously developed the CRISPR/cas 9 gene editing tool, which is a system that originated from bacteria as a defense mechanism against viruses. In their article, Huang and his team demonstrate that CRISPR/cas-9 gene editing can be used to correct a mutation in zygotes, or sperm-fertilized egg cells. However, they report that using CRISPR/cas 9 to edit those nonviable human zygotes led to off-target changes and, therefore, to unintended mutations in the human genome. Before Huang and his colleagues' experiment, CRISPR/cas 9 had never been used on human zygotes. In their article, Huang and his colleagues demonstrated the need to improve CRISPR/cas 9 gene editing accuracy before using it for gene therapy to treat and correct genetic diseases in humans.

David Baltimore studied viruses and the immune system in the US during the twentieth century. In 1975, Baltimore was awarded the Nobel Prize in Physiology or Medicine for discovering reverse transcriptase, the enzyme used to transfer information from RNA to DNA. The discovery of reverse transcriptase contradicted the central dogma of biology at the time, which stated that the transfer of information was unidirectional from DNA, RNA, to protein. Baltimore’s research on reverse transcriptase led to the discovery of retroviruses, which accelerated the development of treatments for human immunodeficiency virus or HIV and cancer vaccines. Baltimore also influenced public policy and opinion on genetic engineering. In 1975, he helped organize the Asilomar Conference in Pacific Grove, California, which discussed the regulation of recombinant DNA or the DNA created using multiple sources of genetic material. Baltimore’s research demonstrated how retroviruses replicate and infect cells, and his influence on the Asilomar Conference on Recombinant DNA has guided discussions about regulating biotechnology.