In 1990, researcher Jane Hurst and her colleagues published “An Extended Family With a Dominantly Inherited Speech Disorder,” in which they proposed that a single gene was responsible for a language disorder across three generations of a family. Affected individuals of the family, called the KE family, had difficulty producing, expressing and comprehending speech. Hurst and her team studied the KE family and the disorder at the Department of Clinical Genetics at the Great Ormond Street Hospital for Children in London, England. Their report was subsequently published in the journal Developmental Medicine and Child Neurology in 1990. The authors’ conclusions helped researchers better describe and explain language as a developmental and biological phenomenon and led later researchers to discover the proposed gene, mutations to which caused the language disorder.

Hermann Joseph Muller conducted three experiments in 1926 and 1927 that demonstrated that exposure to x-rays, a form of high-energy radiation, can cause genetic mutations, changes to an organism's genome, particularly in egg and sperm cells. In his experiments, Muller exposed fruit flies (Drosophila) to x-rays, mated the flies, and observed the number of mutations in the offspring. In 1927, Muller described the results of his experiments in "Artificial Transmutation of the Gene" and "The Problem of Genic Modification". His discovery indicated the causes of mutation and for that research he later received the Nobel Prize in Physiology or Medicine in 1946. Muller's experiments with x-rays established that x-rays mutated genes and that egg and sperm cells are especially susceptible to such genetic mutations.

John Hunter studied human reproductive anatomy, and in eighteenth century England, performed one of the earliest described cases of artificial insemination. Hunter dissected thousands of animals and human cadavers to study the structures and functions of organ systems. Much of his anatomical studies focused on the circulatory, digestive, and reproductive systems. He helped to describe the exchange of blood between pregnant women and their fetuses. Hunter also housed various natural collections, as well as thousands of preserved specimens from greater than thirty years of anatomy work. Hunter's work developed practices in reproductive and reparative surgery and furthered the study of human anatomy and physiology.

In February 1953, Linus Pauling and Robert Brainard Corey, two scientists working at the California Institute of Technology in Pasadena, California, proposed a structure for deoxyribonucleic acid, or DNA, in their article “A Proposed Structure for the Nucleic Acids,” henceforth “Nucleic Acids.” In the article, Pauling and Corey suggest a model for nucleic acids, including DNA, that consisted of three nucleic acid strands wound together in a triple helix. “Nucleic Acids” was published in Proceedings of the National Academy of Sciences shortly after scientists came to the consensus that genes, the biological factors that control how organisms develop, contained DNA. Though scientists proved Pauling and Corey’s model incorrect, “Nucleic Acids” helped scientists understand DNA’s structure and function as genetic material.

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.

In 2012, a team of scientists across the US conducted an experiment to find the mechanism that allowed a group of flatworms, planarians, to regenerate any body part. The group included Danielle Wenemoser, Sylvain Lapan, Alex Wilkinson, George Bell, and Peter Reddien. They aimed to identify genes that are expressed by planarians in response to wounds that initiated a regenerative mechanism. The researchers determined several genes as important for tissue regeneration. The investigation helped scientists explain how regeneration is initiated and describe the overall regenerative mechanism of whole organisms.

Roberto Caldeyro-Barcia studied fetal health in Uruguay during the second half of the twentieth century. Caldeyro-Barcia developed Montevideo units, which are used to quantify intrauterine pressure, or the force of contractions during labor. Intrauterine pressure is a useful measure of the progression of labor and the health of a fetus. Caldeyro-Barcia’s research on fetal health often contradicted common obstetric practices, prompting him to publically challenge practices such as induction of labor using oxytocin, forced pushing during labor, and birth position in which the woman lays on her back during labor. Caldeyro-Barcia’s methods of monitoring intrauterine pressure and development of Montevideo units furthered research in maternal and fetal health and improved the use of medical interventions during labor and delivery.

Curt Jacob Stern studied radiation and chromosomes in humans and fruit flies in the United States during the twentieth century. He researched the mechanisms of inheritance and of mitosis, or the process in which the chromosomes in the nucleus of a single cell, called the parent cell, split into identical sets and yield two cells, called daughter cells. Stern worked on the Drosophila melanogaster fruit fly, and he provided early evidence that chromosomes exchange genetic material during cellular reproduction. During World War II, he provided evidence for the harmful effects of radiation on developing organisms. That research showed that mutations can cause problems in developing fetuses and can lead to cancer. He helped explain how genetic material transmits from parent to progeny, and how it functions in developing organisms.

Diana W. Bianchi studied the medical treatment of premature and newborn infants in the US during the twentieth and twenty-first centuries. Bianchi helped develop non-invasive prenatal genetic tests that use cell-free fetal DNA found within maternal blood to diagnose genetic abnormalities of the fetus during pregnancy. The test provides a means to test fetuses for chromosomal and genetic abnormalities.

In the 2012 case Texas Medical Providers Performing Abortion Services v. David Lakey, a US appeals court ruled as constitutional a Texas law that required abortion providers in the state to show women receiving abortions the ultrasound images of their fetuses. The law also required providers to describe the sounds of the fetuses' nascent hearts. In doing so, the court set precedent that ultrasound readings are necessary medical information for pregnant women seeking abortions, increasing the wait-period for women seeking abortions. The decision fueled debates in the early twenty-first century US abouts women's rights to abortions.