In 1947, Carl Richard Moore, a researcher at the University of Chicago, in Chicago, Illinois, wrote Embryonic Sex Differentiation and Sex Hormones, which was published in the same year as a first-edition monograph. In the book, Moore argues that regulation of sex differentiation in mammals is not controlled by sex hormones secreted by embryonic sex organs (gonads), but is controlled by non-hormonal genetic factors. In support of his hypothesis, Moore describes the current literature on sex differentiation, and he reviews experiments on vertebrates and invertebrates and his own work with opossum (Didelphis virginiana) young.

In 1995 and 1996, researchers at the Roslin Institute in Edinburgh, Scotland, cloned mammals for the first time. Keith Campbell, Jim McWhir, William Ritchie, and Ian Wilmut cloned two sheep, Megan and Morag, using sheep embryo cells. The experiments indicated how to reprogram nuclei from differentiated cells to produce live offspring, and that a single population of differentiated cells could produce multiple offspring. They reported their results in the article 'Sheep Cloned by Nuclear Transfer from a Cultured Cell Line' in March 1996. This experiment led the Roslin team to later clone mammals from adult body cells and to genetically engineer mammals.

In 2006, Kazutoshi Takahashi and Shinya Yamanaka reprogrammed mice fibroblast cells, which can produce only other fibroblast cells, to become pluripotent stem cells, which have the capacity to produce many different types of cells. Takahashi and Yamanaka also experimented with human cell cultures in 2007. Each worked at Kyoto University in Kyoto, Japan. They called the pluripotent stem cells that they produced induced pluripotent stem cells (iPSCs) because they had induced the adult cells, called differentiated cells, to become pluripotent stem cells through genetic manipulation. Yamanaka received the Nobel Prize in Physiology or Medicine in 2012, along with John Gurdon, as their work showed scientists how to reprogram mature cells to become pluripotent. Takahashi and Yamanaka's 2006 and 2007 experiments showed that scientists can prompt adult body cells to dedifferentiate, or lose specialized characteristics, and behave similarly to embryonic stem cells (ESCs).

In the twentieth century, researchers developed the oral glucose tolerance test, or OGTT, as a method to diagnose different types of diabetes, a medical condition that causes blood sugar levels to become abnormally high. During the test, a healthcare provider measures a person’s blood sugar levels before and after the person consumes a predetermined amount of glucose solution. While not exclusively used for pregnant women, an OGTT may test for gestational diabetes which, according to the International Diabetes Federation, affected one in six pregnancies worldwide in 2019. Generally, the results from an OGTT can inform a patient and her physician how her body is responding to glucose during pregnancy, and high levels may increase her risk of developing adverse pregnancy outcomes such as heavy bleeding during delivery and a high blood pressure condition known as preeclampsia. An OGTT can help to accurately diagnose, treat, and monitor gestational diabetes in pregnant women, which can reduce health and pregnancy complications for the woman and the fetus.

Early 1990s research conducted by Peter Koopman, John Gubbay, Nigel Vivian, Peter Goodfellow, and Robin Lovell-Badge, showed that chromosomally female (XX) mice embryos can develop as male with the addition of a genetic fragment from the Y chromosome of male mice. The genetic fragment contained a segment of the mouse Sry gene, which is analogous to the human SRY gene. The researchers sought to identify Sry gene as the gene that produced the testis determining factor protein (Tdf protein in mice or TDF protein in humans), which initiates the formation of testis. Koopman's team published their results in 1991 in Male Development of Chromosomally Female Mice Transgenic for Sry gene. Their results showed that Sry gene partly determines the sex of an embryo and is the only gene on the Y chromosome necessary for initiation of male development in mice.

Edmund Beecher Wilson experimented with Amphioxus (Branchiostoma) embryos in 1892 to identify what caused their cells to differentiate into new types of cells during the process of development. Wilson shook apart the cells at early stages of embryonic development, and he observed the development of the isolated cells. He observed that in the normal development of Amphioxus, all three main types of symmetry, or cleavage patterns observed in embryos, could be found. Wilson proposed a hypothesis that reformed the Mosaic Theory associated with Wilhelm Roux in Germany. Wilson suggested that cells differentiated into other cells when influenced by physiological (dynamic) changes in the hereditary substance contained in cells, and not because of the qualitative division, or parcelling out, of the substance into daughter cells. Wilson published his results in August 1893.

In a series of experiments during mid 1930s, a team of researchers in New York helped establish that bacteria of the species Toxoplasma gondii can infect humans, and in infants can cause toxoplasmosis, a disease that inflames brains, lungs, and hearts, and that can organisms that have it. The team included Abner Wolf, David Cowen, and Beryl Paige. They published the results of their experiment in Human Toxoplasmosis: Occurrence in Infants as an Encephalomyelitis Verification of Transmission to Animals. Toxoplasmosis is an infection that causes inflammations in the brain (encephalitis), heart (myocarditis), and lungs (pneumonitis). The disease is caused in organisms that consume items contaminated by the protozoan parasite Toxoplasma gondii. The bacteria can transfer from pregnant women to their fetuses during pregnancy (congenitally), and it can lead those fetuses to develop physical deformities and mental disabilities. The 1930s experiments established Toxoplasma gondii as a human pathogen and helped increase research into congenital toxoplasmosis, enabling later researchers to develop measures to prevent against the disease in pregnant women.

Experiments conducted by Elizabeth Blackburn, Carol Greider, and Jack Szostak from 1982 to 1989 provided theories of how the ends of chromosomes, called telomeres, and the enzyme that repairs telomeres, called telomerase, worked. The experiments took place at the Sidney Farber Cancer Institute and at Harvard Medical School in Boston, Massachusetts, and at the University of California in Berkeley, California. For their research on telomeres and telomerase, Blackburn, Greider, and Szostak received the Nobel Prize in Physiology or Medicine in 2009. Telomeres and telomerase affect the lifespan of mammalian cells and ensure that cells rapidly develop within developing embryos.

George Wells Beadle and Edward Lawrie Tatum's 1941 article Genetic Control of Biochemical Reactions in Neurospora detailed their experiments on how genes regulated chemical reactions, and how the chemical reactions in turn affected development in the organism. Beadle and Tatum experimented on Neurospora, a type of bread mold, and they concluded that mutations to genes affected the enzymes of organisms, a result that biologists later generalized to proteins, not just enzymes. Beadle and Tatum's experiments provided an early link between genetics and the field of molecular biology.

In the 1990s, researchers working at the Roslin Institute in Edinburgh, Scotland, performed cloning experiments in collaboration with PPL Therapeutics in Roslin, Scotland, on human coagulation factor IX, a protein. The team of scientists used the methods identified during the Dolly experiments to produce transgenic livestock capable of producing milk containing human blood clotting factor IX, which helps to treat a type of hemophilia. By using a cell's resting state, called quiescence, or G0, and transferring modified nuclear material from one cell to an egg cell that had had its nuclear material removed, the researchers developed a method to produce genetically modified mammals, including humans. Angelika E. Schnieke, Alexander J. Kind, William A. Ritchie, Karen Mycock, Angela R. Scott, Marjorie Ritchie, Ian Wilmut, Alan Colman, and Keith H. S. Campbell published the results of their experiments as Human Factor IX Transgenic Sheep Produced by Transfer of Nuclei from Transfected Fetal Fibroblasts (hereafter called Human Factor IX). The article details the methods that produced the cloned sheep named Polly, as well as other cloned and genetically altered sheep.