Embryo Project Encyclopedia

Spina bifida is a birth defect that affects the spines of developing fetuses and infants, and research in the 20th century indicated that chemicals in the herbicide Agent Orange likely lead to the birth defect. People with spina bifida can have nerve damage, paralysis, and mental disabilities. During the Vietnam War in the 1960s, the US military employed Agent Orange and other herbicides to destroy enemy crops and forest cover until 1970. Though studies of the link between Agent Orange exposure and birth defects were at first inconclusive, in 1995 the US National Academy of Sciences concluded that one birth defect, spina bifida, was associated with paternal Agent Orange exposure. Spina bifida was, by the twenty-first century, the only birth defect that the US Veterans Administration connected to Agent Orange exposure.

Curt Jacob Stern studied radiation and chromosomes in humans and fruit flies in the United States during the twentieth century. He researched the mechanisms of inheritance and of mitosis, or the process in which the chromosomes in the nucleus of a single cell, called the parent cell, split into identical sets and yield two cells, called daughter cells. Stern worked on the Drosophila melanogaster fruit fly, and he provided early evidence that chromosomes exchange genetic material during cellular reproduction. During World War II, he provided evidence for the harmful effects of radiation on developing organisms. That research showed that mutations can cause problems in developing fetuses and can lead to cancer. He helped explain how genetic material transmits from parent to progeny, and how it functions in developing organisms.

Kurt Benirschke studied cells, placentas, and endangered species in Germany and the US during the twentieth century. Benirschke was professor at the University of California in San Diego, California, and a director of the research department at the San Diego Zoo in San Diego, California. He also helped form the research department of the San Diego Zoo and its sister organization, the Center for Reproduction of Endangered Species. Benirschke contributed to the field of embryology through his work on human and animal reproduction, including work on human placentas and birth defects, through work on the structure of chromosomes, and through work on the reproduction and conservation of endangered species.

The Hayflick Limit is a concept that helps to explain the
mechanisms behind cellular aging. The concept states that a normal human
cell can only replicate and divide forty to sixty times before it
cannot divide anymore, and will break down by programmed cell death
or apoptosis. The concept of the Hayflick Limit revised Alexis
Carrel's earlier theory, which stated that cells can replicate
themselves infinitely. Leonard Hayflick developed the concept while
at the Wistar Institute in Philadelphia,
Pennsylvania, in 1965. In his 1974 book Intrinsic
Mutagenesis, Frank Macfarlane Burnet named the concept after
Hayflick. The concept of the Hayflick Limit helped scientists study
the effects of cellular aging on human populations from embryonic
development to death, including the discovery of the effects of
shortening repetitive sequences of DNA, called telomeres, on the
ends of chromosomes. Elizabeth Blackburn, Jack Szostak and Carol
Greider received the Nobel Prize in Physiology or Medicine in 2009
for their work on genetic structures related to the Hayflick
Limit.

Theophilus Shickel Painter studied the structure and
function of chromosomes in the US during in the early to mid-twentieth century. Painter worked at
the University of Texas at Austin in Austin, Texas. In the 1920s
and 1930s, Painter studied the chromosomes of the salivary gland
giant chromosomes of the fruit fly (Drosophila
melanogaster), with Hermann J. Muller. Muller and Painter
studied the ability of X-rays to cause changes in the chromosomes
of fruit flies. Painter also studied chromosomes in mammals.
He investigated the development of the male gamete, a process
called spermatogenesis, in several invertebrates and vertebrates,
including mammals. In addition, Painter studied the role the
Y-chromosome plays in the determination and development of the male
embryo. Painter's research concluded that egg cells fertilized by
sperm cell bearing an X-chromosome resulted in a female embryo,
whereas egg cells fertilized by a sperm cell carrying a
Y-chromosome resulted in a male embryo. Painter's work with
chromosomes helped other researchers determine that X- and
Y-chromosomes are responsible for sex determination.

The Origin and Behavior of Mutable Loci in Maize, by Barbara McClintock, was published in 1950 in the Proceedings of the National Academy of Sciences of the United States of America. McClintock worked at the Cold Spring Harbor Laboratory in Laurel Hollow, New York, at the time of the publication, and describes her discovery of transposable elements in the genome of corn (Zea mays). Transposable elements, sometimes called transposons or jumping genes, are pieces of the chromosome capable of physically changing positions along the chromosome. The Origin and Behavior explains the mechanics of development that occur in maize kernels, which are plant embryos.

The article Experimental Studies on Congenital Malformations was published in the Journal of Chronic Diseases in 1959. The author, James G. Wilson, studied embryos and birth defects at the University of Florida Medical School in Gainesville, Florida. In his article, Wilson reviewed experiments on birds and mammals from the previous forty years to provide general principles and guidelines in the study of birth defects and teratogens, which are things that cause birth defects. Those principles included what species are convenient for conducting teratological research, what principles act in human embryological and fetal development, and what agents impact those processes. Wilson's article was one of the first attempts in the twentieth century to synthesize basic research conducted in the field of teratology. The article helped to establish teratology as a field in medicine during the twentieth century.

Sidney Q. Cohlan studied birth defects in the US during the twentieth century. Cohlan helped to discover that if a pregnant woman ate too much vitamin A her fetus faced a higher than normal risk of teratogenic effects, such as cleft palate. A teratogen is a substance that causes malformation of a developing organism. Cohlan also identified the teratogenic effects of several other substances including a lack of normal magnesium and prenatal exposure to the antibiotic tetracycline. Cohlan's experiments with vitamins and other chemicals brought attention to how nutrition and environmental agents adversely affect human pregnancy outcomes.

In 2009, Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers developed the technology of mitochondrial gene replacement therapy to prevent the transmission of a mitochondrial disease from mother to offspring in primates. Mitochondria contain some of the body's genetic material, called mitochondrial DNA. Occasionally, the mitochondrial DNA possesses mutations. Mitalipov and Tachibana, researchers at the Oregon National Primate Research Center in Beaverton, Oregon, developed a technique to remove the nucleus of the mother and place it in a donor oocyte, or immature egg cell, with healthy mitochondria. The resulting offspring contain the genetic material of three separate individuals and do not have the disease. Mitalipov and Tachibana's technology of mitochondrial gene replacement built on decades of research by different scientists and enables researchers to prevent the transmission of human mitochondrial diseases from mother to offspring.