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Mitochondrial Diseases in Humans
Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemostasis, cell signaling, regulation of programmed cell death (apoptosis), and biosynthesis of heme proteins that carry oxygen.
Subject: Disorders, Reproduction
Amniocentesis is a test used for prenatal diagnosis of inherited diseases, Rh incompatibility, neural tube defects, and lung maturity. Normally performed during the second trimester of a pregnancy, this invasive procedure allows the detection of health problems in the fetus as early as fifteen weeks gestation. Although amniocentesis does carry some significant risks, the medical community commonly accepts it as a safe and useful procedure.
Subject: Technologies, Reproduction
"Gene Regulation for Higher Cells: A Theory" (1969), by Roy J. Britten and Eric H. Davidson
In 1969, Roy J. Britten and Eric H. Davidson published Gene Regulation for Higher Cells: A Theory, in Science. A Theory proposes a minimal model of gene regulation, in which various types of genes interact to control the differentiation of cells through differential gene expression. Britten worked at the Carnegie Institute of Washington in Washington, D.C., while Davidson worked at the California Institute of Technology in Pasadena, California. Their paper was an early theoretical and mechanistic description of gene regulation in higher organisms.
Oral Glucose Tolerance Test for Gestational Diabetes
In the twentieth century, researchers developed the oral glucose tolerance test, or OGTT, as a method to diagnose different types of diabetes, a medical condition that causes blood sugar levels to become abnormally high. During the test, a healthcare provider measures a person’s blood sugar levels before and after the person consumes a predetermined amount of glucose solution. While not exclusively used for pregnant women, an OGTT may test for gestational diabetes which, according to the International Diabetes Federation, affected one in six pregnancies worldwide in 2019.
Subject: Technologies, Reproduction, Experiments
The March of Dimes Foundation
The March of Dimes Foundation, or the March of Dimes, is a non-profit organization headquartered in Arlington, Virginia, focused on the health of pregnant women and infants in the US. Former United States president Franklin Delano Roosevelt founded the March of Dimes, then called the National Foundation for Infantile Paralysis, in 1938 to address polio. Polio is a viral illness that infects the spinal cord and may lead to paralysis. Roosevelt contracted polio in 1921, which left him permanently paralyzed from the waist down.
Josef Warkany (1902–1992)
Josef Warkany studied the environmental causes of birth defects in the United States in the twentieth century. Warkany was one of the first researchers to show that factors in the environment could cause birth defects, and he helped to develop guidelines for the field of teratology, the study of birth defects. Prior to Warkany’s work, scientists struggled to explain if or how environmental agents could cause birth defects. Warkany demonstrated that a deficiency or excess of vitamin A in maternal nutrition could cause birth defects.
The Notch Signaling Pathway in Embryogenesis
The Notch signaling pathway is a mechanism in animals by which adjacent cells communicate with each other, conveying spatial information and genetic instructions for the animal's development. All multicellular animals utilize Notch signaling, which contributes to the formation, growth, and development of embryos (embryogenesis). Notch signaling also contributes to the differentiation of embryonic cells into various types of cells into various types of cells, such as neurons.
Jan Evangelista Purkyne (1787-1869)
Jan Evangelista Purkyne, also called Johannes or Johann Evangelist Purkinje, studied cells in the cerebellum, fibers of the heart, subjective visual phenomenon, and germinal vesicle, in eastern Europe during the early nineteenth century. His investigations provided insights into various mechanisms and structures of the human body. Purkyne introduced techniques for decalcification of bones and teeth, embedding of tissue specimens, and eye examinations.
"Mitochondrial DNA and Human Evolution" (1987), by Rebecca Louise Cann, Mark Stoneking, and Allan Charles Wilson
In 1987 Rebecca Louise Cann, Mark Stoneking, and Allan Charles Wilson published Mitochondrial DNA and Human Evolution in the journal Nature. The authors compared mitochondrial DNA from different human populations worldwide, and from those comparisons they argued that all human populations had a common ancestor in Africa around 200,000 years ago. Mitochondria DNA (mtDNA) is a small circular genome found in the subcellular organelles, called mitochondria.
Subject: Publications, Theories
Joseph Bolivar DeLee (1869–1942)
Joseph Bolivar DeLee was an obstetrician in the US between the nineteenth and twentieth centuries who advocated for the specialized teaching of medical students in the field of obstetrics to address problems occurring during pregnancy. He claimed obstetricians maintained a wider skillset than midwives, and founded the Chicago Lying-In Hospital to provide affordable obstetric care to women in Chicago, Illinois.
Emil von Behring (1854–1917)
Emil von Behring researched treatments for the common childhood disease diphtheria in Germany in the 1890s and early 1900s. Diphtheria is a lethal disease that infected approximately 40,000 people in Germany between 1886 and 1888 with a general mortality rate of twenty-five percent. Behring investigated treatment of diphtheria using serum therapy, which is an alternative to vaccination that uses protective agents from other people’s blood to defend a patient against disease. Behring termed those protective agents antitoxins.
The Whelan Method of Sex Selection
The Whelan Method of Sex Selection is a method for increasing a couple’s probability of conceiving an infant of the desired sex through timing intercourse. Elizabeth Whelan, a public health researcher, suggested that couples only have intercourse at specific times during the woman’s menstrual cycle based on whether they wanted a female or male infant. Whelan published her method in her book, Boy or Girl, in 1977.
Throughout history methods involving urine have been a popular way to test for pregnancy. Early ideas ranged from simply observing the color of a woman's urine to the notion that the urine of pregnant women contains special crystals or secretions. Indeed, pregnancy testing can be traced back to 1350 BCE in Ancient Egypt. A written document from the time describes a process in which a woman would urinate on wheat and barley seeds over several days and, depending on which plant grew, both the woman's pregnancy status and the sex of the fetus could be determined.
Subject: Technologies, Reproduction
Alan Mathison Turing (1912-1954)
Alan Mathison Turing was a British mathematician and computer scientist who lived in the early twentieth century. Among important contributions in the field of mathematics, computer science, and philosophy, he developed a mathematical model of morphogenesis. This model describing biological growth became fundamental for research on the process of embryo development.
Tissue engineering is a field of regenerative medicine that integrates the knowledge of scientists, physicians, and engineers into the construction or reconstruction of human tissue. Practitioners of tissue engineering seek to repair, replace, maintain, and enhance the abilities of a specific tissue or organ by means of living cells. More often than not stem cells are the form of living cells used in this technology. Tissue engineering is one of the disciplines involved in translating knowledge of developmental biology into the clinical setting.
George Richard Tiller (1941-2009)
George Richard Tiller, a doctor who performed abortions in Wichita, Kansas, was shot to death on 31 May 2009 by Scott Roeder. As the director of one of only a small number of clinics in the US that performed legal late-term abortions, Tiller was a target for anti-abortion activists. Though Tiller lived and worked in Kansas, his work agitated anti-abortion groups and fueled the controversy surrounding abortion at a national level. Tiller's life and death fueled the abortion debate in the US.
Subject: People, Reproduction
The Discovery of The Dikika Baby Fossil as Evidence for Australopithecine Growth and Development
When scientists discovered a 3.3
million-year-old skeleton of a child of the human lineage (hominin) in
2000, in the village of Hadar, Ethiopia, they were able to study growth
and development of Australopithecus
afarensis, an extinct hominin species. The team of researchers,
led by Zeresenay Alemseged of the Max Planck Institute for Evolutionary
Anthropology in Leipzig, Germany, named the fossil DIK 1-1 and nicknamed
it Dikika baby after the Dikika research site. The Dikika fossil
Harold Delf Gillies (1882-1960)
Harold Delf Gillies performed one of the first sexual reassignment surgeries, termed gender affirmation surgeries as of 2022, on record in 1946 in London, England. He also practiced modern plastic surgery and helped distinguish it as a new branch of medicine in London, England, starting in the early 1900s. Gillies’s work focused initially on facial reconstructive surgery, particularly during both World War I and World War II. Gillies created newer and more efficient techniques that later became standard procedures for reconstructive and cosmetic surgeries.
Subject: People, Technologies
The Y-Chromosome in Animals
The Y-chromosome is one of a pair of chromosomes that determine the genetic sex of individuals in mammals, some insects, and some plants. In the nineteenth and twentieth centuries, the development of new microscopic and molecular techniques, including DNA sequencing, enabled scientists to confirm the hypothesis that chromosomes determine the sex of developing organisms. In an adult organism, the genes on the Y-chromosome help produce the male gamete, the sperm cell. Beginning in the 1980s, many studies of human populations used the Y-chromosome gene sequences to trace paternal lineages.
Subject: Reproduction, Theories
Sonja Vernes, et al.'s Experiments On the Gene Networks Affected by the Foxp2 Protein (2011)
In 2011, Sonja Vernes and Simon Fisher performed a series of experiments to determine which developmental processes are controlled by the mouse protein Foxp2. Previous research showed that altering the Foxp2 protein changed how neurons grew, so Vernes and Fisher hypothesized that Foxp2 would affect gene networks that involved in the development of neurons, or nerve cells. Their results confirmed that Foxp2 affected the development of gene networks involved in the growth of neurons, as well as networks that are involved in cell specialization and cell communication.
"CRISPR /Cas9-mediated Gene Editing in Human Tripronuclear Zygotes" (2015), by Junjiu Huang et al.
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.
Subject: Publications, Experiments
Frank Rattray Lillie's Study of Freemartins (1914-1920)
Frank Rattray Lillie's research on freemartins from 1914 to 1920 in the US led to the theory that hormones partly caused for sex differentiation in mammals. Although sometimes applied to sheep, goats, and pigs, the term freemartin most often refers to a sterile cow that has external female genitalia and internal male gonads and was born with a normal male twin.
Roy John Britten (1919-2012)
Roy John Britten studied DNA sequences in the US in the second
half of the twentieth century, and he helped discover repetitive
elements in DNA sequences. Additionally, Britten helped propose
models and concepts of gene regulatory networks. Britten studied the
organization of repetitive elements and, analyzing data from the
Human Genome Project, he found that the repetitive elements in DNA
segments do not code for proteins, enzymes, or cellular parts.
Britten hypothesized that repetitive elements helped cause cells to
Transvaginal Ultrasound-Guided Oocyte Retrieval
Transvaginal ultrasound-guided oocyte retrieval, also known as egg retrieval, is a surgical technique used by medical professionals to extract mature eggs directly from the women’s ovaries under the guidance of ultrasound imaging. In 1982, physicians Suzan Lenz and Jorgen Lauritsen at the University of Copenhagen in Copenhagen, Denmark, proposed the technology to improve the egg collection aspect of in vitro fertilization, or IVF. During IVF, a healthcare practitioner must remove mature eggs from a woman’s ovaries to fertilize them with sperm outside of the body.
Subject: Technologies, Reproduction
Matthew Howard Kaufman (1942–2013)
Matthew Kaufman was a professor of anatomy at the University of Edinburgh, in Edinburgh, UK, who specialized in mouse anatomy, development, and embryology during the late twentieth century. According to the The Herald, he was the first, alongside his colleague Martin Evans, to isolate and culture embryonic stem cells. Researchers initially called those cells Evans-Kaufman cells. In 1992, Kaufman published The Atlas of Mouse Development, a book that included photographs of mice development and mice organs over time.