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.

Paul Eugen Bleuler studied autism and schizophrenia, among other psychiatric disorders, throughout continental Europe in the early twentieth century. Bleuler worked as a psychiatrist caring for patients with psychiatric disorders at a variety of facilities in Europe. In 1908, Bleuler coined the term schizophrenia to describe a group of diseases that cause changes in thought processes and behavior in humans as well as difficulties relating to the world. Bleuler also introduced the concepts of autism, which he defined as a disconnect from the outside world, and ambivalence, which he defined as the coexistence of conflicting ideas in one’s mind. Bleuler’s concepts enabled later researchers, such as Bernard Rimland, to study the causes of those disorders, and to suggest that abnormal development of fetal brains potentially caused those disorders.

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.

Emil Kraepelin was a physician who studied people with mental illness in the late nineteenth and early twentieth centuries in modern-day Germany. Kraepelin's examination and description of the symptoms and outcomes of mental illness formed the basis for his classification of psychiatric disorders into two main groups, dementia praecox, now called schizophrenia, and manic-depressive psychosis, now called bipolar disorder. He was one of the first physicians to suggest that those researching mental illness should gain scientific knowledge only through close observation and description. However, Kraepelin also believed that genetics played a role in the development and course of mental illness and characterized mentally ill people as weak-willed, which some have argued contributed to stigma about mental illnesses that persist today. Although some historians have pointed out issues with Kraepelin’s teachings, Kraepelin helped to establish psychiatry as a clinical science, which prompted future experimental investigations into mental illness.