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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.
Format: Articles
Subject: Disorders, Reproduction
“A Linkage Between DNA Markers on the X Chromosome and Male Sexual Orientation” (1993), by Dean H. Hamer and Charles A. Thomas.
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.
Format: Articles
Subject: Experiments
Alec John Jeffreys (1950–)
Alec John Jeffreys created a process called DNA fingerprinting in the UK during the twentieth century. For DNA fingerprinting, technicians identify a person as the source of a biological sample by comparing the genetic information contained in the person's DNA to the DNA contained in the sample. Jeffreys developed the technique in the 1980s while at the University of Leicester in Leicester, UK. Jeffreys's technique had immediate applications. In forensic science, DNA fingerprinting enabled police to identify suspects of crimes based on their genetic identities.
Format: Articles
Subject: People
MicroSort
"MicroSort, developed in 1990 by the Genetics and IVF Institute, is a form of pre-conception sex selection technology for humans. Laboratories located around the world use MicroSort technology to help couples increase their chances of conceiving a child of their desired sex. MicroSort separates male sperm cells based on which sex chromosome they contain, which results in separated semen samples that contain a higher percentage of sperm cells that carry the same sex chromosome.
Format: Articles
Subject: Technologies
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the gene associated with cystic fibrosis (CF). Tsui's research pinpointed the gene, some mutations to which cause CF, and it revealed the underlying disease mechanism. The CFTR gene encodes a protein in the cell membrane in epithelial tissues and affects multiple organ systems in the human body. Mutations in the CFTR gene cause dysfunctional regulation of cell electrolytes and water content.
Format: Articles
Subject: Disorders, Reproduction
The Effects of Diethylstilbestrol on Embryonic Development
Estrogen plays a key role in the regulation of gene transcription. This is accomplished by its ability to act as a ligand and to bind to specific estrogen receptor (ER) molecules, such as ERα and ERβ, which act as nuclear transcription factors. There are three major nuclear estrogen receptor protein domains: the estrogen binding domain, the protein interaction domain, and the DNA binding domain.
Format: Articles
Subject: Disorders
Leonardo da Vinci's Embryological Drawings of the Fetus
Leonardo da Vinci's embryological drawings of the fetus in the womb and his accompanying observational annotations are found in the third volume of his private notebooks. The drawings of Leonardo's embryological studies were conducted between the years 1510-1512 and were drawn with black and red chalk with some pen and ink wash on paper. These groundbreaking illustrations of the fetus reveal his advanced understanding of human development and demonstrate his role in the vanguard of embryology during the Renaissance.
Format: Articles
Subject: Processes
Quickening
Quickening, the point at which a pregnant woman can first feel the movements of the growing embryo or fetus, has long been considered a pivotal moment in pregnancy. Over time, this experience has been used in a variety of contexts, ranging from representing the point of ensoulment to determining whether an abortion was legal to indicating the gender of the unborn baby; philosophy, theology, and law all address the idea of quickening in detail. Beginning with Aristotle, quickening divided the developmental stages of embryo and fetus.
Format: Articles
Subject: Processes, Ethics, Reproduction
Leonardo da Vinci's Embryological Annotations
Among his myriad scientific and artistic contributions, Leonardo da Vinci's work in embryology was groundbreaking. He observed and diagramed the previously undemonstrated position of the fetus in the womb with detailed accompanying annotations of his observations. Leonardo was highly paranoid of plagiarism and wrote all of his notes in mirror-like handwriting laden with his own codes, making his writing difficult to discern and delaying its impact.
Format: Articles
Subject: Publications
Birth without Violence (1975), by Frederick Leboyer
In Birth without Violence (1975), French obstetrician Frederick Leboyer describes in poetic form the possible perceptions and feelings of embryos and fetuses before, during, and after birth. His work has helped to promote a gentler and more sensitive birthing method with the goal of easing the newborn's transition from the womb to the outside world. Leboyer's birthing method influenced later birth techniques such as water birth and unassisted childbirth.
Format: Articles
Subject: Publications, Reproduction
Roman Catholic Church Quickening
Although the concept of quickening was not developed initially by the Roman Catholic Church, much of their histories are intertwined. Quickening, the point at which a pregnant woman can first feel the movements of the growing embryo or fetus, has long been a pivotal moment in pregnancy. Historically, it has also been a pivotal moment for law and the Church in deciding the criminal and religious sanctions for women who intentionally procured an abortion.
Format: Articles
Subject: Religion
Studies in Spermatogenesis (1905), by Nettie Maria Stevens
Studies in Spermatogenesis is a two volume book written by Nettie Maria Stevens, and published by the Carnegie Institution of Washington in 1905 and 1906. In the books Stevens explains the research she conducted on chromosomal sex determination in the sperm and egg cells of insect species while at Bryn Mawr College, near Philadelphia, Pennsylvania. Studies in Spermatogenesis described early examples of chromosomal XY sex-determination.
Format: Articles
Subject: Publications
"Embryonic Stem Cell Lines Derived from Human Blastocytes" (1998), by James Thomson
After becoming chief pathologist at the University of Wisconsin-Madison Wisconsin Regional Primate Center in 1995, James A. Thomson began his pioneering work in deriving embryonic stem cells from isolated embryos. That same year, Thomson published his first paper, "Isolation of a Primate Embryonic Stem Cell Line," in Proceedings of the National Academy of Sciences of the United States of America, detailing the first derivation of primate embryonic stem cells. In the following years, Thomson and his team of scientists - Joseph Itskovitz-Eldor, Sander S. Shapiro, Michelle A.
Format: Articles
Subject: Experiments, Publications
Robert Geoffrey Edwards's Study of in vitro Mammalian Oocyte Maturation, 1960 to 1965
In a series of experiments between 1960 and 1965, Robert Geoffrey Edwards discovered how to make mammalian egg cells, or oocytes, mature outside of a female's body. Edwards, working at several research institutions in the UK during this period, studied in vitro fertilization (IVF) methods. He measured the conditions and timings for in vitro (out of the body) maturation of oocytes from diverse mammals including mice, rats, hamsters, pigs, cows, sheep, and rhesus monkeys, as well as humans.
Format: Articles
Subject: Experiments, Reproduction
Multi-Fetal Pregnancy
In humans, multi-fetal pregnancy occurs when a mother carries more than one fetus during the pregnancy. The most common multi-fetal pregnancy is twins, but mothers have given birth to up to eight children (octuplets) from a single pregnancy. Multiple fetusus can result from the release of multiple eggs or multiple ovulations, the splitting of a single fertilized egg, and fertility treatments such as in vitro fertilization (IVF) which involves the insertion of many fertilized eggs into the mother's uterus.
Format: Articles
Subject: Processes, Reproduction
The Effects of Bisphenol A on Embryonic Development
Bisphenol A (BPA) is an organic compound that was first synthesized by Aleksandr Dianin, a Russian chemist from St. Petersburg, in 1891. The chemical nomenclature of BPA is 2,2-bis (4-hydroxyphenyl) propane. The significance of this synthesized compound did not receive much attention until 1936, when two biochemists interested in endocrinology, Edward Dodds and William Lawson, discovered its ability to act as an estrogen agonist in ovariectomized, estrogen-deficient rats.
Format: Articles
Subject: Disorders, Reproduction
Human Fertilisation and Embryology Act (1990)
The Human Fertilisation and Embryology Act 1990 established the legal framework that governs infertility treatment, medical services ancillary to infertility treatment such as embryo storage, and all human embryological research performed in the UK. The law also defines a legal concept of the parent of a child conceived with assisted reproductive technologies.
Format: Articles
Subject: Legal, Reproduction, Ethics
Niemann-Pick Disease
In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease.
Format: Articles
Subject: Disorders
Dandy-Walker Syndrome
Dandy-Walker Syndrome is a congenital brain defect in humans characterized by malformations to the cerebellum, the part of the brain that controls movement, and to the ventricles, the fluid-filled cavities that surround the cerebellum. The syndrome is named for physicians Walter Dandy and Arthur Walker who described associated signs and symptoms of the syndrome in the 1900s. The malformations often develop during embryonic stages.
Format: Articles
Subject: Disorders
Pre- and Post-natal Growth Deficiencies and Fetal Alcohol Syndrome
Maternal consumption of alcohol (ethanol) during pregnancy can inhibit prenatal growth, resulting in fetuses that are small for gestational age. Those prenatal growth deficiencies can have lasting consequences for early childhood development and are often reflected by low weight and stature. Those alcohol-induced pre- and post-natal growth deficiencies ("failure to thrive") are among the abnormal developmental criteria used to identify Fetal Alcohol Syndrome (FAS). FAS is characterized by minor facial abnormalities and deficiencies of the central nervous system as well.
Format: Articles
Subject: Disorders
Curt Jacob Stern (1902-1981)
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.
Format: Articles
Subject: People
Sex-determining Region Y in Mammals
The Sex-determining Region Y (Sry in mammals but SRY in humans) is a gene found on Y chromosomes that leads to the development of male phenotypes, such as testes. The Sry gene, located on the short branch of the Y chromosome, initiates male embryonic development in the XY sex determination system. The Sry gene follows the central dogma of molecular biology; the DNA encoding the gene is transcribed into messenger RNA, which then produces a single Sry protein.
Format: Articles
Subject: Processes
"The linear arrangement of six sex-linked factors in drosophila, as shown by their mode of association” (1913), by Alfred Henry Sturtevant
In 1913, Alfred Henry Sturtevant published the results of experiments in which he showed how genes are arranged along a chromosome. Sturtevant performed those experiments as an undergraduate at Columbia University, in New York, New York, under the guidance of Nobel laureate Thomas Hunt Morgan. Sturtevant studied heredity using Drosophila, the common fruit fly. In his experiments, Sturtevant determined the relative positions of six genetic factors on a fly’s chromosome by creating a process called gene mapping.
Format: Articles
Subject: Experiments, Publications
Lap-Chee Tsui (1950-)
Lap-Chee Tsui is a geneticist who discovered the cystic fibrosis (CF) gene, and his research team sequenced human chromosome 7. As the location of the cystic fibrosis gene is now known, it is possible for doctors and specialists to identify in human fetuses the mutation that causes the fatal disease. Tsui's research also outlined the mechanisms for the development of cystic fibrosis, which were previously unknown.
Format: Articles
Subject: People, Reproduction
Calvin Blackman Bridges (1889-1938)
Calvin Blackman Bridges studied chromosomes and heredity in the US throughout the early twentieth century. Bridges performed research with Thomas Hunt Morgan at Columbia University in New York City, New York, and at the California Institute of Technology in Pasadena, California. Bridges and Morgan studied heredity in Drosophila, the common fruit fly. Throughout the early twentieth century, researchers were gathering evidence that genes, or what Gregor Mendel had called the factors that control heredity, are located on chromosomes.
Format: Articles
Subject: People