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.

In 2002, after applying for government assistance in the state of Washington, Lydia Fairchild was told that her two children were not a genetic match with her and that therefore, biologically, she could not be their mother. Researchers later determined that the genetic mismatch was due to chimerism, a condition in which two genetically distinct cell lines are present in one body. The state accused Fairchild of fraud and filed a lawsuit against her. Following evidence from another case of chimerism documented in The New England Journal of Medicine in a woman named Karen Keegan, Fairchild was able to secure legal counsel and establish evidence of her biological maternity. A cervical swab eventually revealed Fairchild’s second distinct cell line, showing that she had not genetically matched her children because she was a chimera. Fairchild’s case was one of the first public accounts of chimerism and has been used as an example in subsequent discussions about the validity and reliability of DNA evidence in legal proceedings within the United States.

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.

In 1942, the United States Supreme Court Case of Skinner v. Oklahoma ruled that states could not legally sterilize those inmates of prisons deemed habitual criminals. Skinner v. Oklahoma was about the case of Jack Skinner, an inmate of the Oklahoma State Penitentiary in McAlester, Oklahoma, who was subject to sterilization under the Oklahoma Habitual Criminal Sterilization Act of 1935. The case, decided on 1 June 1942, determined that state laws were unconstitutional if those laws enabled states to forcibly sterilize inmates deemed to be habitual criminals. Such laws violated the Equal Protection Clause of the Fourteenth Amendment to the US Constitution. The Skinner v. Oklahoma decision also reflected tensions in US eugenic policies when juxtaposed against similar policies of the Nazi regime in Europe, especially with regard to sterilization measures.

Franz Josef Kallmann studied the biological and genetic factors of psychological disorders in Germany and the United States in the twentieth century. His studies at the New York State Psychiatric Institute in New York City, New York, focused on the genetic factors that cause psychiatric disorders. Kallmann was one of the first to use twins to study how a mental disorder is passed on by comparing the occurrence of epilepsy and schizophrenia in both fraternal and identical twins. Kallmann helped to develop and popularize the methodology of twin studies to examine the genetic component of psychiatric disorders and he showed a factor for the psychiatric disease schizophrenia.