The book Infant Mortality: Results of a Field Study in Johnstown, PA., Based on Births in One Calendar Year (1915), written by Emma Duke, detailed one of the first infant mortality field studies conducted by the US Children's Bureau. In the study, Duke and her colleagues collected information about over one thousand infants in the city of Johnstown, Pennsylvania. They used that information, along with interviews conducted with the families of the infants, to identify factors that affected infant mortality rates in the community. Duke and her team found strong correlations between elevated infant mortality rates and conditions experienced by Johnstown residents of lower socioeconomic status. The design and implementation of the study described in Infant Mortality: Johnstown, PA provided a model for future Children's Bureau research that resulted in seven additional infant mortality studies in other US cities. Infant Mortality: Results of a Field Study in Johnstown, PA., Based on Births in One Calendar Year quantitatively demonstrated the link between poverty and infant mortality.
In the early 1920s, researchers Edgar Allen and Edward Adelbert Doisy conducted an experiment that demonstrated that ovarian follicles, which produce eggs in mammals, also contain and produce what they called the primary ovarian hormone, later renamed estrogen. In their experiment, Doisy and Allen extracted estrogen from the ovarian follicles of hogs and proved that they had isolated estrogen by using a measurement later renamed the Allen-Doisy test. Allen and Doisy’s 1923 experiment to isolate estrogen showed it was made within the ovaries and also established a method for isolating the sex hormone. That method provided a basis for future research on hormones. Later researchers showed that estrogen functions in the menstrual cycles of primates by signaling for the tissue lining the uterus (endometrium) to thicken in preparation for possible implantation of a fertilized egg.
In 1980, Ernesto Ippolito and Ignacio Ponseti published their results on a histological study they performed on congenital club foot in human fetuses. The researchers examined the feet of four aborted fetuses and compared the skeletal tissues from healthy feet to those affected by congenital club foot. Infants born with club foot are born with one or both feet rigidly twisted inwards and upwards, making typical movement painful and challenging. Ippolito and Ponseti studied how the connective tissues, such as the ligaments and tendons stretching across the foot and ankle, function to pull the affected foot out of place as the fetus develops. Their findings helped researchers determine club foot’s potential causes and possible treatments by focusing on connective tissues.
In the early twentieth century US, Jean Paul Pratt and Edgar Allen conducted clinical experiments on women who had abnormal menstrual cycles. During the clinical tests, researchers injected the hormone estrogen into their patients to alleviate their menstrual ailments, which ranged from irregular cycles to natural menopause. The hormone estrogen plays a prominent role in the menstrual cycle by signaling the tissue lining the uterus (endometrium) to thicken in preparation for possible pregnancy. In their clinical tests, Pratt and Allen showed that injecting estrogen into female human subjects restored their normal menstrual cycle, removed symptoms such as hot flashes, and caused uterine tissue to grow. The clinical tests conducted by Pratt and Allen provided experimental evidence and justification for the injection of isolated estrogen in women to alleviate, for a short amount of time, different menstrual problems, and it contributed to later hormone therapy research.
Jeffrey Weinzweig and his team, in the US at the turn of the twenty-first century, performed a series of experiments on fetal goats to study the feasibility of repairing cleft palates on organisms still in the womb. Weinzweig , a plastic surgeon who specialized in cleft palate repair, and his team developed a method to cause cleft palates in fetal goats that are similar to clefts that occur in human fetuses. Using their goat congenital model, the team developed a method to repair a congenital cleft palate in utero, or in the womb. The resultant goat newborns had fully developed palates without scarring and with minimal functional impairment. The researchers recommended that surgeons use their repair methods in humans to decrease the incidence of speech impairment commonly associated with cleft palate patients.
In 2004, Shu-Shya Heh, Lindsey Coombes, and Helen Bartlett studied the association between Chinese postpartum (post-childbirth) practices and postpartum depression in Taiwanese women. The researchers surveyed Taiwanese women about the social support they received after giving birth and then evaluated the depression rates in the same women. Heh and her colleagues focused on the month following childbirth, which according to traditional Chinese medicine, is an important period that warrants a set of specialized practices to aid the woman's recovery. Collectively called zuoyuezi (doing the month), the postpartum practices require the help of someone else, typically the woman's mother or mother-in-law, to complete. Heh and her colleagues found that generally, Taiwanese women with more social support displayed fewer postpartum depressive symptoms, and concluded that the practice of doing the month helped prevent postpartum depression in Taiwanese women.
In the early 2000s, Sabata Martino and a team of researchers in Italy and Germany showed that they could reduce the symptoms of Tay-Sachs in afflicted mice by injecting them with a virus that infected their cells with a gene they lacked. Tay-Sachs disease is a fatal degenerative disorder that occurs in infants and causes rapid motor and mental impairment, leading to death at the ages of three to five. In gene therapy, researchers insert normal genes into cells that have missing or defective genes in order to correct genetic disorders. The team created a virus that coded for a specific gene missing in mice with Tay-Sachs. That missing gene is called hexosaminidase subunit alpha (HEXA). Martino and the team injected the virus into the brains of mice with Tay-Sachs in attempt to restore Hexa enzymatic function in the brain and spinal cord (central nervous system).
In 1993, Dean H. Hamer and colleagues in the US published results from their research that indicated that men with speicifc genes were more likely to be homosexual than were men without those genes. The study hypothesized that some X chromosomes contain a gene, Xq28, that increases the likelihood of an individual to be homosexual. Prior to those results, researchers had argued that the cause of homosexuality was environmental and that homosexuality could be altered or reversed. Hamer’s research suggested a possible genetic cause of homosexuality. The study inspired further research into biological mechanisms of homosexuality.
In 1931, physician Lucy Wills conducted a study of nutritional deficiencies that caused anemia in pregnant women in Bombay, India, later renamed Mumbai. Anemia is a lack of healthy red blood cells in the blood. Wills published the results of her study in the medical article 'Treatment of ‘Pernicious Anaemia of Pregnancy' and 'Tropical Anaemia'' in the British Medical Journal in 1931. Wills's research contributed to knowledge of anemia and the possible causes associated with the disease, such as the symptoms of fatigue and irritability. Wills attempted to connect the association of B vitamins and anemia. Wills's findings influenced scientists to research the importance of folic acid, one of the B group vitamins, and the role it plays in the development of a fetus and in women's health.
From 1958 to 1961, Leonard Hayflick and Paul Moorhead in the US developed a way in the laboratory to cultivate strains of human cells with complete sets of chromosomes. Previously, scientists could not sustain cell cultures with cells that had two complete sets of chromosomes like normal human cells (diploid). As a result, scientists struggled to study human cell biology because there was not a reliable source of cells that represented diploid human cells. In their experiments, Hayflick and Moorhead created lasting strains of human cells that retained both complete sets of chromosomes. They then froze samples from the cultures so that the cells remained viable for future research. They also noted that cells could divide only a certain number of times before they degraded and died, a phenomenon later called the Hayflick limit. Hayflick and Moorhead’s experiment enabled research on developmental biology and vaccines that relied on human cell strains.