In 2015, Junjiu Huang and his colleagues reported their attempt to enable CRISPR/cas 9-mediated gene editing in nonviable human zygotes for the first time at Sun Yat-Sen University in Guangzhou, China. Their article, CRISPR /Cas9-mediated Gene Editing in Human Tripronuclear Zygotes, was published in Protein and Cell. Nonviable zygotes are sperm-fertilized eggs that cannot develop into a fetus. Researchers previously developed the CRISPR/cas 9 gene editing tool, which is a system that originated from bacteria as a defense mechanism against viruses. In their article, Huang and his team demonstrate that CRISPR/cas-9 gene editing can be used to correct a mutation in zygotes, or sperm-fertilized egg cells. However, they report that using CRISPR/cas 9 to edit those nonviable human zygotes led to off-target changes and, therefore, to unintended mutations in the human genome. Before Huang and his colleagues' experiment, CRISPR/cas 9 had never been used on human zygotes. In their article, Huang and his colleagues demonstrated the need to improve CRISPR/cas 9 gene editing accuracy before using it for gene therapy to treat and correct genetic diseases in humans.

Between 1935 and 1937, Leonard Colebrook showed that sulfonamides, a class of antibacterial drugs, worked as an effective treatment for puerperal fever. Puerperal fever is a bacterial infection that can occur in the uterus of women after giving birth. At the time of Colebrook’s study, puerperal fever remained a common disease due to both the lack of hygienic practices in hospitals and a treatment for the disease. After successfully using Prontosil, a sulfanilamide, to cure a patient who was going to die from puerperal fever, Colebrook began experiments with the drug. He successfully treated patients with puerperal fever with sulfonamides, specifically Prontosil and sulfanilamide. Colebrook conducted the experiment from 1935 to 1936 primarily at the Queen Charlotte’s Hospital in London, England. After Colebrook’s success using antibacterial drugs in treating puerperal fever, use of antibacterial drugs became widespread in developed countries and, by the 1950s, it had made maternal deaths rare in those countries.

In 2007, Dennis Lo and his colleagues used digital polymerase chain reaction or PCR to detect trisomy 21 in maternal blood, validating the method as a means to detect fetal chromosomal aneuploidies, or an abnormal number of chromosomes in a cell. The team conducted their research at the Chinese University of Hong Kong in Hong Kong, Hong Kong, and at the Boston University in Boston, Massachusetts. Because small amounts of fetal DNA appear in maternal blood during pregnancy, Lo and his team hypothesized that they could detect fetal chromosomal aneuploidy trisomy 21, or Down’s syndrome, in a sample of maternal blood. The group diagnosed Down’s syndrome in unborn fetuses by first taking a maternal blood sample, then amplifying the small amounts of fetal DNA in the maternal blood using digital PCR, and applying two genetic methods to that sample. Lo and his colleagues’ experiment demonstrated the accuracy of a novel, noninvasive method for fetal chromosomal aneuploidy testing that can enable people to make informed decisions about their pregnancies.

In 2007, Philippe Horvath and his colleagues explained how bacteria protect themselves against viruses at Danisco, a Danish food company, in Dangé-Saint-Romain, France. Horvath and his team worked to improve the lifespan of bacteria cultures for manufacturing yogurt and ice cream. Specifically, they focused on bacteria’s resistance to bacteriophages, or viruses that infect bacteria. Horvath and his colleagues found that the bacteria used to culture yogurt, Streptococcus thermophilus, has an adaptive immune system that can target specific viruses that have previously infected the bacteria. The immune system is called the CRISPR/cas system, or the clustered regularly interspaced short palindromic repeats/CRISPR associated protein system. Horvath and his colleagues explained how bacteria use CRISPR/cas as an immune system to target viruses and protect themselves from infection. The discovery informed the development of CRISPR/cas as a gene editing tool to modify bacterial, animal, and human genomes.

Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers replaced the mitochondrial genes of primate embryonic stem cells via spindle transfer. Spindle replacement, also called spindle transfer, is the process of removing the genetic material found in the nucleus of one egg cell, or oocyte, and placing it in another egg that had its nucleus removed. Mitochondria are organelles found in all cells and contain some of the cell’s genetic material. Mutations in the mitochondrial DNA can lead to neurodegenerative and muscle diseases. Mitalipov and Tachibana used spindle replacement to produce healthy offspring from an egg with mutated mitochondria in rhesus macaques (Macaca mulatta). The experiment showed that spindle transfer eliminated the chance of transmission of mitochondrial diseases from the affected primates to their offspring, offering the potential to eliminate mitochondrial diseases in humans.

Between 1958 and 1962, physicians Olive W. Smith, George V. Smith, and Robert W. Kistner performed experiments that demonstrated the effects of the drugs MER-25 and clomiphene citrate on the female human body. MER-25 and clomiphene citrate are drugs that affect estrogen production in women. At the time of the experiment, researchers did not know which organ or organs the drugs affected, the ovaries and/or the anterior pituitary gland. To determine that, the physicians reviewed nine of their own previous studies in women in which they measured the urinary output of hormones after the administration of either drug. Based on their examination the researchers concluded that MER-25 appeared to influence the anterior pituitary gland in the brain to produce a response in the ovaries and that clomiphene citrate appeared to act on the ovaries. Their results provided early evidence about the mechanisms of both drugs. Later, clomiphene citrate became a common fertility drug.

In 1963, Ignacio Ponseti and Eugene Smoley experimentally determined an effective and minimally invasive method of treating congenital clubfoot. Congenital clubfoot is a disorder in which a newborn’s foot is rigidly turned inwards and upwards. During the early 1960s, orthopedists often relied on invasive surgical procedures to treat clubfoot. In Ponseti and Smoley’s experiment, Ponseti and Smoley had a team of physicians treat patients with clubfoot using the Ponseti method, which consisted of manually manipulating each patient’s foot into a more desirable position and subsequently casting each foot to heal in place. After following up with the patients for several years, Ponseti and Smoley concluded that the Ponseti method is an effective alternative to the more invasive surgical procedures that orthopedists had often relied on. Ponseti and Smoley provided physicians with a novel and minimally invasive method of correcting foot deformities to ensure that developing infants maintain healthy feet.

During 1964, David Hubel and Torsten Wiesel studied the short and long term effects of depriving kittens of vision in one eye. In their experiments, Wiesel and Hubel used kittens as models for human children. Hubel and Wiesel researched whether the impairment of vision in one eye could be repaired or not and whether such impairments would impact vision later on in life. The researchers sewed one eye of a kitten shut for varying periods of time. They found that when vision impairments occurred to the kittens right after birth, their vision was significantly affected later on in life, as the cells that were responsible for processing visual information redistributed to favor the unimpaired eye. Hubel and Wiesel worked together for over twenty years and received the 1981 Nobel Prize for Physiology or Medicine for their research on the critical period for mammalian visual system development. Hubel and Wiesel’s experiments with kittens showed that there is a critical period during which the visual system develops in mammals, and it also showed that any impairment of that system during that time will affect the lifelong vision of a mammal.

In the 1950s and 1960s, Roger Sperry performed experiments on cats, monkeys, and humans to study functional differences between the two hemispheres of the brain in the United States. To do so he studied the corpus callosum, which is a large bundle of neurons that connects the two hemispheres of the brain. Sperry severed the corpus callosum in cats and monkeys to study the function of each side of the brain. He found that if hemispheres were not connected, they functioned independently of one another, which he called a split-brain. The split-brain enabled animals to memorize double the information. Later, Sperry tested the same idea in humans with their corpus callosum severed as treatment for epilepsy, a seizure disorder. He found that the hemispheres in human brains had different functions. The left hemisphere interpreted language but not the right. Sperry shared the Nobel Prize in Physiology or Medicine in 1981for his split-brain research.

From February 2003 to December 2010, researchers of the Management of Myelomeningocele Study, or MOMS, clinical trial compared the safety and efficacy of different treatments for a specific type of spina bifida, called myelomeningocele. Myelomeningocele, the most frequent and severe form of spina bifida, is a condition in which the bony spinal column does not develop correctly, which causes an opening of the spine, exposure of the spinal cord, and formation of a small sac containing cerebrospinal fluid. Myelomeningocele affects 3.4 infants per 10,000 live births in the United States and is fatal in ten percent of affected infants. Investigators in the MOMS trial aimed to find a more successful treatment for myelomeningocele through different types of surgery. To accomplish that, they performed prenatal, or in utero, and postnatal repair operations in their study. The MOMS researchers concluded that prenatal repair improved motor and neurologic outcomes, such as the ability to activate and coordinate the muscles and limbs, and reduced the risk for fetal death.