Allan C. Wilson studied genes, proteins, and body structures of animals and humans in the US during the second half of the twentieth century. Wilson also studied human evolution. Although morphology and behaviors of humans (Homo sapiens) and great apes differ, Wilson found that they have biochemical and genetic similarities. Wilson and his colleagues calculated the time period of humans' and African apes' common ancestor. Wilson and his team also studied DNA outside of the nucleus in the cellular energy producing particles, called mitochondrial DNA (mtDNA), to study when different human groups evolved from each other.

Julia Bell worked in twentieth-century Britain, discovered Fragile X Syndrome, and helped find heritable elements of other developmental and genetic disorders. Bell also wrote much of the five volume Treasury of Human Inheritance, a collection about genetics and genetic disorders. Bell researched until late in life, authoring an original research article on the effects of the rubella virus of fetal development (Congenital Rubella Syndrome) at the age of 80.

Paul M. Brakefield and his research team in Leiden, the Netherlands, examined the development, plasticity, and evolution of butterfly eyespot patterns, and published their findings in Nature in 1996. Eyespots are eye-shaped color patterns that appear on the wings of some butterflies and birds as well as on the skin of some fish and reptiles. In butterflies, such as the peacock butterfly Aglais, the eyespots resemble the eyes of birds and help butterflies deter potential predators. Brakefield's research team described the stages through which eyespots develop, identified the genes and environmental signals that affect eye-spot appearance in some species, and demonstrated that small genetic variations can change butterfly eyespot color and shape. The research focused on a few butterfly species, but it contributed to more general claims of how the environment may affect the development of coloration and how specific color patterns may have evolved.

In 1969, Roy J. Britten and Eric H. Davidson published Gene Regulation for Higher Cells: A Theory, in Science. A Theory proposes a minimal model of gene regulation, in which various types of genes interact to control the differentiation of cells through differential gene expression. Britten worked at the Carnegie Institute of Washington in Washington, D.C., while Davidson worked at the California Institute of Technology in Pasadena, California. Their paper was an early theoretical and mechanistic description of gene regulation in higher organisms.

Golden Rice was engineered from normal rice by Ingo Potrykus and Peter Beyer in the 1990s to help improve human health. Golden Rice has an engineered multi-gene biochemical pathway in its genome. This pathway produces beta-carotene, a molecule that becomes vitamin A when metabolized by humans. Ingo Potrykus worked at the Swiss Federal Institute of Technology in Zurich, Switzerland, and Peter Beyer worked at University of Freiburg, in Freiburg, Germany. The US Rockefeller Foundation supported their collaboration. The scientists and their collaborators first succeeded in expressing beta-carotene in rice in 1999, and they published the results in 2000. Since then, scientists have improved Golden Rice through laboratory and field trials, but as of 2013 no countries have grown it commercially. Golden Rice is a technology that intersects scientific and ethical debates that extend beyond a grain of rice.

Francis Harry Compton Crick, who co-discovered the structure of deoxyribonucleic acid (DNA) in 1953 in Cambridge, England, also developed The Central Dogma of Molecular Biology, and further clarified the relationship between nucleotides and protein synthesis. Crick received the Nobel Prize in Physiology or Medicine that he shared with James Watson and Maurice Wilkins in 1962 for their discovery of the molecular structure of DNA. Crick's results on the genetic material found in all living organisms advanced theories of inheritance and spurred further studies into the field of genetics and embryology.

The hedgehog signaling pathway is a mechanism that directs the development of embryonic cells in animals, from invertebrates to vertebrates. The hedgehog signaling pathway is a system of genes and gene products, mostly proteins, that convert one kind of signal into another, called transduction. In 1980, Christiane Nusslein-Volhard and Eric F. Wieschaus, at the European Molecular Biology Laboratory in Heidelberg, Germany, identified several fruit fly (Drosophila melanogaster) genes. They found that when those genes were changed or mutated, the mutated genes disrupted the normal development of fruit fly larvae. The researchers called one of the genes hedgehog (abbreviated hh). Nusslein-Volhard, Wieschaus, and Edward B. Lewis, at the California Institute of Technology in Pasadena, California, shared the 1995 Nobel Prize for Physiology or Medicine for their research on how genes control early embryonic development in fruit flies. The hedgehog signaling pathway is conserved across many animal taxa or phyla, from Drosophila to humans. The hedgehog signaling pathway controls several key components of embryonic development, stem-cell maintenance, and it influences the development of some cancers.

Christiane Nusslein-Volhard studied how genes control embryonic development in flies and in fish in Europe during the twentieth and twenty-first centuries. In the 1970s, Nusslein-Volhard focused her career on studying the genetic control of development in the fruit fly Drosophila melanogaster. In 1988, Nusslein-Volhard identified the first described morphogen, a protein coded by the gene bicoid in flies. In 1995, along with Eric F. Wieschaus and Edward B. Lewis, she received the Nobel Prize in Physiology or Medicine for the discovery of genes that establish the body plan and segmentation in Drosophila. Nusslein-Volhard also investigated the genetic control of embryonic development to zebrafish, further generalizing her findings and helping establishing zebrafish as a model organism for studies of vertebrate development.

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.

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.