Robert Guthrie developed a method to test infants for phenylketonuria (PKU) in the United States during the twentieth century. PKU is an inherited condition that causes an amino acid called phenylalanine to build to toxic levels in the blood. Untreated, PKU causes mental disabilities. Before Guthrie’s test, physicians rarely tested infants for PKU and struggled to diagnosis it. Guthrie’s test enabled newborns to be quickly and cheaply screened at birth and then treated for PKU if necessary, preventing irreversible neurological damage. After developing the test, Guthrie traveled the world to advocate for mass screening for PKU in newborns. Along with his PKU test, Guthrie developed newborn screens for maple syrup urine disease and for galactosemia. Guthrie’s test for PKU and campaign for newborn screening led to the early diagnoses of PKU in thousands of infants, preventing those infants from developing mental disabilities.

Camillo Golgi studied the central nervous system during the late nineteenth and early twentieth centuries in Italy, and he developed a staining technique to visualize brain cells. Called the black reaction, Golgi’s staining technique enabled him to see the cellular structure of brain cells, called neurons, with much greater precision. Golgi also used the black reaction to identify structures within animal cells like the internal reticular apparatus that stores, packs, and modifies proteins, later named the Golgi apparatus in his honor. Golgi, along with Santiago Ramón y Cajal, received the Nobel Peace Prize in 1906 for their independent work on the structure of the nervous system. Golgi’s discovery of the black reaction enabled other scientists to better study the structure of the nervous system and its development.

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.

Virginia Apgar worked as an obstetrical anesthesiologist, administering drugs that reduce women’s pain during childbirth, in the US in the mid-twentieth century. In 1953, Apgar created a scoring system using five easily assessable measurements, including heart rate and breathing rate, to evaluate whether or not infants would benefit from medical attention immediately after birth. Apgar’s system showed that infants who were previously set aside as too sick to survive, despite low Apgar scores, could recover with immediate medical attention. Additionally, Apgar researched the effects of anesthesia used during childbirth and advocated for the prevention and management of birth defects. Apgar’s work led to a decrease in infant mortality rates in the mid-twentieth century, and into the twenty-first century, hospitals around the world still used the Apgar score at one and five minutes after birth.

George Nicholas Papanicolaou developed the Pap test in the United States during the twentieth century. The Pap test is a diagnostic procedure used to test for cervical cancer in women. Papanicolaou’s work helped improve the reproductive health of women by providing an effective means of identifying precancerous cells and improving the likelihood of early treatment and survival of cervical cancer.

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.

Julia Clifford Lathrop was an activist and social reformer in the late nineteenth to early twentieth centuries and the first chief of the United States Children’s Bureau. In that capacity, she conducted demographic studies to identify links between socioeconomic factors and infant mortality rates. Lathrop mobilized the effort to increase birth registration and designed programs and publications to promote infant and maternal health throughout the US. Through her studies, she empirically linked poverty and lack of education with higher than normal risks of infant and maternal mortality, and her results supported legislation aimed at lowering infant and maternal mortality in the US.

Hermann Joseph Muller studied the effects of x-ray radiation on genetic material in the US during the twentieth century. At that time, scientists had yet to determine the dangers that x-rays presented. In 1927, Muller demonstrated that x-rays, a form of high-energy radiation, can mutate the structure of genetic material. Muller warned others of the dangers of radiation, advising radiologists to protect themselves and their patients from radiation. He also opposed the indiscriminate use of radiation in medical and industrial fields. In 1946, he received the Nobel Prize in Physiology or Medicine for his lifetime work involving radiation and genetic mutation. Muller's worked enabled scientists to directly study mutations without having to rely on naturally occurring mutations. Furthermore, Muller showed that radiation, even in small doses, leads to genetic mutations primarily in germ cells, cells which give rise to sperm and egg cells.

Percivall Pott was a physician in England during the eighteenth century who identified soot as the cause of chimney sweeps' scrotal cancer, later called testicular cancer. In the 1770s, Pott observed that scrotal cancer commonly afflicted chimney sweeps, the young boys sent up into chimneys to clean away the soot left over from fires, and he hypothesized that the soot inside chimneys might cause that type of cancer. Pott was one of the first doctors to identify some environmental factor as causing cancer. Pott's research helped chimney sweeps to prevent scrotal cancer by using protective clothing, and it also allowed for future research on environmental causes of cancers.

William Withey Gull studied paraplegia, anorexia, and hormones as a physician in England during the nineteenth century. In addition to caring for patients, he described the role of the posterior column of the spinal cord in paraplegia, and he was among the first to describe the conditions of anorexia and of hypochondria. He also researched the effects of thyroid hormone deficiencies in women who had malfunctioning thyroid glands. Gull's research on thyroid hormone confirmed that chemicals in the body directly affect health, and he contributed to the foundation of endocrinology, the scientific field for the study of hormones.