Embryo Project Encyclopedia

Rosalind Elsie Franklin worked with X-ray crystallography at King's College London, UK, and she helped determine the helical structure of DNA in the early 1950s. Franklin's research helped establish molecular genetics, a field that investigates how heredity works on the molecular level. The discovery of the structure of DNA also made future research possible into the molecular basis of embryonic development, genetic disorders, and gene manipulation.

James Marion Sims developed a surgical cure for ruptures of the wall separating the bladder from the vagina during labor, ruptures called vesico-vaginal fistulas, and he developed techniques and tools used to improve reproductive examinations and health care for women in the US during the nineteenth century. Sims's lateral examination position allowed doctors to better see the vaginal cavity, and his speculum, a spoon-like object used for increased view into the vagina, helped to make gynecological examinations more thorough. Sims helped ease the physical and social strains of post-birth women who suffered from vesico-vaginal fistulas, and he established the first hospital in New York City, New York, dedicated solely to treating women and improving women's health care.

The San Diego Zoo Institute for Conservation Research (SDZICR) in San Diego, California, is a research organization that works to generate, use, and share information for the conservation of wildlife and their habitats. In 1975, Kurt Benirschke, a researcher at the University of California, San Diego (UCSD) who studied human and animal reproduction, and Charles Bieler, the director of the San Diego Zoo, collaborated to form the Center for Reproduction of Endangered Species (CRES). In 2009, the San Diego Zoo announced the creation of SDZICR, which expanded and replaced CRES, to provide central organization and management of scientific programs at the San Diego Zoo. By 2004, Allison Alberts was the director of research and for more than a decade oversaw the SDZICR's many research initiatives, including the collection and storage of genetic and reproductive information of rare and endangered animal and plant species.

In the late 1990s researchers Yuk Ming Dennis Lo and his colleagues isolated fetal DNA extracted from pregnant woman’s blood. The technique enabled for more efficient and less invasive diagnoses of genetic abnormalities in fetuses, such as having too many copies of chromosomes. Lo’s team published their results in 1997’s “Presence of Fetal DNA in Maternal Plasma and Serum.” The results led to developments of clinical tests that can access fetal genetic information and detect genetic abnormalities before birth without the significant risks that can potentially harm the fetus associated with invasive genetic testing techniques.

In February 1953, Linus Pauling and Robert Brainard Corey, two scientists working at the California Institute of Technology in Pasadena, California, proposed a structure for deoxyribonucleic acid, or DNA, in their article “A Proposed Structure for the Nucleic Acids,” henceforth “Nucleic Acids.” In the article, Pauling and Corey suggest a model for nucleic acids, including DNA, that consisted of three nucleic acid strands wound together in a triple helix. “Nucleic Acids” was published in Proceedings of the National Academy of Sciences shortly after scientists came to the consensus that genes, the biological factors that control how organisms develop, contained DNA. Though scientists proved Pauling and Corey’s model incorrect, “Nucleic Acids” helped scientists understand DNA’s structure and function as genetic material.

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.

NovaSure is a device for endometrial ablation, which is a procedure that removes the endometrium, that the US Food and Drug Administration, or FDA, approved for use on 28 September 2001. Endometrium is the tissue that lines the uterus. NovaSure destroys the endometrium by sending electric beams at the endometrium. Hologic, a medical technology company concerned with women’s health, developed NovaSure to treat menorrhagia, or heavy bleeding during menstruation. Menorrhagia is a common symptom of endometriosis. Endometriosis is the growth of the endometrium outside of the uterus. While NovaSure is not a treatment that doctors use to directly treat endometriosis, the procedure may help alleviate heavy bleeding during menstruation, which may improve a patient’s quality of life as heavy menstrual bleeding is often associated with high levels of anxiety and low levels of confidence.

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.

David Baltimore studied viruses and the immune system in the US during the twentieth century. In 1975, Baltimore was awarded the Nobel Prize in Physiology or Medicine for discovering reverse transcriptase, the enzyme used to transfer information from RNA to DNA. The discovery of reverse transcriptase contradicted the central dogma of biology at the time, which stated that the transfer of information was unidirectional from DNA, RNA, to protein. Baltimore’s research on reverse transcriptase led to the discovery of retroviruses, which accelerated the development of treatments for human immunodeficiency virus or HIV and cancer vaccines. Baltimore also influenced public policy and opinion on genetic engineering. In 1975, he helped organize the Asilomar Conference in Pacific Grove, California, which discussed the regulation of recombinant DNA or the DNA created using multiple sources of genetic material. Baltimore’s research demonstrated how retroviruses replicate and infect cells, and his influence on the Asilomar Conference on Recombinant DNA has guided discussions about regulating biotechnology.

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.