The hedgehog signaling pathway is a mechanism that regulates cell growth and differentiation during embryonic development, called embryogenesis, in animals. The hedgehog signaling pathway works both between cells and within individual cells.

Kurt Benirschke studied cells, placentas, and endangered species in Germany and the US during the twentieth century. Benirschke was professor at the University of California in San Diego, California, and a director of the research department at the San Diego Zoo in San Diego, California. He also helped form the research department of the San Diego Zoo and its sister organization, the Center for Reproduction of Endangered Species. Benirschke contributed to the field of embryology through his work on human and animal reproduction, including work on human placentas and birth defects, through work on the structure of chromosomes, and through work on the reproduction and conservation of endangered species.

Barbara McClintock conducted experiments on corn (Zea mays) in the United States in the mid-twentieth century to study the structure and function of the chromosomes in the cells. McClintock researched how genes combined in corn and proposed mechanisms for how those interactions are regulated. McClintock received the Nobel Prize in Physiology or Medicine in 1983, the first woman to win the prize without sharing it. McClintock won the award for her introduction of the concept of transposons, also called jumping genes. McClintock conceptualized some genetic material as not static in structure and order, but as subject to re-arrangement and may be altered during development.

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.

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.

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.

Leon Chesley studied hypertension, or high blood pressure, in pregnant women during the mid-twentieth century. Chesley studied preeclampsia and eclampsia, two hypertensive disorders found in approximately five percent of all US pregnancies. In New Jersey and New York, Chesley devoted over forty years to researching preeclampsia and eclampsia. Chesley conducted several long-term studies using the same group of women beginning from their pregnancies. Chesley’s multi-decade research led to more accurate diagnosis of preeclampsia and eclampsia in pregnant women and significantly reduced the mortality of pregnant women due to hypertensive diseases.