Walter Jakob Gehring discovered the homeobox, a DNA segment found in a specific cluster of genes that determine the body plan of animals, plants, and fungi. Gehring identified the homeobox in 1983, with the help of colleagues while isolating the Antennapedia (Antp) gene in fruit flies (Drosophila) at the University of Basel in Basel, Switzerland. Hox genes, a family of genes that have the homeobox, determine the head-to-tail (anterior-posterior) body axis of both vertebrates and invertebrates. Gehring also identified the homeobox-containing Pax-6 gene as the master control gene in eye development of Drosophila, the same gene that, when mutated or absent in humans, leads to aniridia, or lack of the iris, in humans. Gehring's work with the homeobox suggested to biologists that widely different species share a similar and evolutionarily conserved genetic pathway that controls the development of overall body plans, from fruit flies to humans.

Sir John Bertrand Gurdon further developed nuclear transplantation, the technique used to clone organisms and to create stem cells, while working in Britain in the second half of the twentieth century. Gurdon's research built on the work of Thomas King and Robert Briggs in the United States, who in 1952 published findings that indicated that scientists could take a nucleus from an early embryonic cell and successfully transfer it into an unfertilized and enucleated egg cell. Briggs and King also concluded that a nucleus taken from an adult cell and similarly inserted into an unfertilized enucleated egg cell could not produce normal development. In 1962, however, Gurdon published results that indicated otherwise. While Briggs and King worked with Rana pipiens frogs, Gurdon used the faster-growing species Xenopus laevis to show that nuclei from specialized cells still held the potential to be any cell despite its specialization. In 2012, the Nobel Prize Committee awarded Gurdon and Shinya Yamanaka its prize in physiology and medicine for for their work on cloning and pluripotent stem cells.

Telomerase is an enzyme that regulates the lengths of telomeres in the cells of many organisms, and in humans it begins to function int the early stages of embryonic development. Telomeres are repetitive sequences of DNA on the ends of chromosomes that protect chromosomes from sticking to each other or tangling. In 1989, Gregg Morin found that telomerase was present in human cells. In 1996, Woodring Wright and his team examined human embryonic cells and found that telomerase was active in them. Scientists manipulate telomerase in cells to give cells the capacity to replicate infinitely. Telomerase is also necessary for stem cells to replicate themselves and to develop into more specialized cells in embryos and fetuses.

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.

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.

Theophilus Shickel Painter studied the structure and
function of chromosomes in the US during in the early to mid-twentieth century. Painter worked at
the University of Texas at Austin in Austin, Texas. In the 1920s
and 1930s, Painter studied the chromosomes of the salivary gland
giant chromosomes of the fruit fly (Drosophila
melanogaster), with Hermann J. Muller. Muller and Painter
studied the ability of X-rays to cause changes in the chromosomes
of fruit flies. Painter also studied chromosomes in mammals.
He investigated the development of the male gamete, a process
called spermatogenesis, in several invertebrates and vertebrates,
including mammals. In addition, Painter studied the role the
Y-chromosome plays in the determination and development of the male
embryo. Painter's research concluded that egg cells fertilized by
sperm cell bearing an X-chromosome resulted in a female embryo,
whereas egg cells fertilized by a sperm cell carrying a
Y-chromosome resulted in a male embryo. Painter's work with
chromosomes helped other researchers determine that X- and
Y-chromosomes are responsible for sex determination.

Sheldon Clark Reed helped establish the profession of genetic counseling in the US during the twentieth century. In 1947 Reed coined the term genetic counseling to describe the interaction of a doctor explaining to a patient the likelihood of passing a certain trait to their offspring. With physicians being able to test for genetic abnormalities like cystic fibrosis, Reed helped trained individuals give patients the tools to make informed decisions. In 1955 Reed published the book Counseling in Medical Genetics. Reed educated patients about how certain genetically transmitted traits could adversely affect their offspring and provided options for remedying those effects.

The General Embryological Information Service (GEIS) was an annual report published by the Hubrecht Laboratory in Utrecht, The Netherlands from 1949 to 1981 that disseminated contemporary research information to developmental biologists. The purpose of the annual report was to catalog the names, addresses, and associated research of every developmental biologist in the world. Pieter Nieuwkoop edited each issue from 1949 until 1964, when Job Faber began assisting Nieuwkoop. Bert Z. Salome joined the editing team in 1968 before Nieuwkoop ceased editing duties in 1971. Faber and Salome remained the editors from 1971 until the periodical's final year of circulation in 1981. The Hubrecht Laboratory, a national laboratory created to house a large collection of comparative embryological materials and loan them to interested researchers, sponsored the publication after World War II to facilitate international collaboration and prevent unnecessary duplication of work. The catalog of researchers and the scientific topics grew in number and variety as the field of developmental biology changed during the publication's thirty-two year history.

Edward B. Lewis studied embryonic development in Drosophila, including the discovery of the cis-trans test for recessive genes, and the identification of the bithorax complex and its role in development in Drosophila. He shared the 1995 Nobel Prize in Physiology or Medicine with Christiane Nüsslein-Volhard and Eric F. Wieschaus for work on genetic control of early embryonic development.

Rosalind Elsie Franklin worked with X-ray crystallography at King's College London, UK, and she helped determine the helical structure of DNA in the early 1950s. Franklin's research helped establish molecular genetics, a field that investigates how heredity works on the molecular level. The discovery of the structure of DNA also made future research possible into the molecular basis of embryonic development, genetic disorders, and gene manipulation.