Wilhelm Ludvig Johannsen studied plants and helped found the field of genetics, contributing methods and concepts to the study of heredity around the turn of the twentieth century in Denmark. His experiments on heredity and variation in plants influenced the methods and techniques of geneticists, and his distinction between the genotype of an organism-its hereditary disposition-and its phenotype-its observable characteristics-remains at the core of contemporary biology. Johannsen criticized biological explanations that relied on concepts such as vitalism and teleology. For an alternative, he advocated a realist and materialist approach to biology, but one that did not attempt to reduce biological phenomena to the laws of physics and chemistry.

During the mid-nineteenth century, Johann Gregor Mendel experimented with pea plants to develop a theory of inheritance. In 1843, while a monk in the Augustian St Thomas's Abbey in Brünn, Austria, now Brno, Czech Repubic, Mendel examined the physical appearance of the abbey's pea plants (Pisum sativum) and noted inconsistencies between what he saw and what the blending theory of inheritance, a primary model of inheritance at the time, predicted. With his experiments, which he recored in "Versuche uber Pflanzenhybriden" ("Experiments in Plant Hybridization") in 1865, Mendel discredited the blending theory of inheritance, and from them he proposed laws for inheritance patterns. Despite the fact that Mendel's work did not define all aspects of inheritance, his ideas and laws contributed to later concepts of traits, specifically that offspring inherit traits from their parents via genes, that an offspring has at least two genetic factors for any given qualitative trait, and that the offspring inherits the genetic factors in equal proportion from both parents.

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.

Eric Wieschaus studied how genes cause fruit fly larvae to develop in the US and Europe during the twentieth and twenty-first centuries. Using the fruit fly Drosophila melanogaster, Wieschaus and colleague Christiane Nusslein-Volhard described genes and gene products that help form the fruit fly body plan and establish the larval segments during embryogenesis. This work earned Wieschaus and Nüsslein-Volhard the 1995 Nobel Prize in Physiology or Medicine. Into the early decades of the twenty-first century, Wieschaus continued his thirty year tenure as a professor at Princeton University in Princeton, New Jersey.

Walter Stanborough Sutton studied grasshoppers and connected the phenomena of meiosis, segregation, and independent assortment with the chromosomal theory of inheritance in the early twentieth century in the US. Sutton researched chromosomes, then called inheritance mechanisms. He confirmed a theory of Wilhelm Roux, who studied embryos in Breslau, Germany, in the late 1880s, who had argued that chromosomes and heredity were linked. Theodor Boveri, working in Munich, Germany, independently reached similar conclusions about heredity as Sutton. Later scientists named the theory The Sutton-Boveri Theory, or The chromosomal theory of inheritance.

At the turn of the twentieth century, William Bateson studied organismal variation and heredity of traits within the framework of evolutionary theory in England. Bateson applied Gregor Mendel's work to Charles Darwin's theory of evolution and coined the term genetics for a new biological discipline. By studying variation and advocating Mendelian genetics, Bateson furthered the field of genetics, encouraged the use of experimental methodology to study heredity, and contributed to later theories of genetic inheritance.

Charles Robert Cantor helped sequence the human genome, and he developed methods to non-invasively determine the genes in human fetuses. Cantor worked in the US during the twentieth and twenty-first centuries. His early research focused on oligonucleotides, small molecules of DNA or RNA. That research enabled the development of a technique that Cantor subsequently used to describe nucleotide sequences of DNA, a process called sequencing, in humans. Cantor was the principal scientist for the Human Genome Project, for which scientists sequenced the entirety of the human genome in 2003. Afterwards, Cantor became the chief scientific officer for Sequenom Inc., a company that provided non-invasive prenatal genetic testing. Such tests use a pregnant woman's blood to identify genetic mutations in a fetus during the first trimester of pregnancy.

The one gene-one enzyme hypothesis, proposed by George Wells Beadle in the US in 1941, is the theory that each gene directly produces a single enzyme, which consequently affects an individual step in a metabolic pathway. In 1941, Beadle demonstrated that one gene in the bread mold Neurospora controlled a single, specific chemical reaction in Neurospora, which one enzyme controlled. In the 1950s, the theory that genes produce enzymes that control a single metabolic step was dubbed the one gene-one enzyme hypothesis by Norman Horowitz, a professor at the California Institute of Technology (Caltech) and an associate of Beadle's. This concept helped researchers characterize genes as chemical molecules, and it helped them identify the functions of those molecules.

L'Institut Pasteur (The Pasteur Institute) is a non-profit private research institution founded by Louis Pasteur on 4 June 1887 in Paris, France. The Institute's research focuses on the study of infectious diseases, micro-organisms, viruses, and vaccines. As of 2014, ten scientists have received Nobel Prizes in physiology or medicine for the research they have done at the Pasteur Institute. Contrary to the way genetics was studied in US research universities during the mid-twentieth century, the genetic research conducted at the Pasteur Institute at the same time did not rest on a conceptual separation between embryology and evolution. According to historian Michel Morange from the Ecole Normale Superieure in Paris, France, this difference enabled Pasteurian scientists to develop the concepts of regulatory genes and of developmental genes.