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Cystic Fibrosis
Cystic fibrosis (CF) is a fatal, inherited disease found in humans and characterized by buildup of thick, sticky mucus, particularly in the respiratory and digestive tracts. The abnormally thick mucus prevents the pancreas from functioning normally; it often leads to digestive problems and chronic lung infections. Cystic fibrosis is most prevalent in Caucasian individuals, and approximately 1 in every 29 individuals in the US is a carrier for the mutated CF gene.
Format: Articles
Subject: Disorders
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
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
Dorothy Andersen (1901–1963)
Dorothy Andersen studied cystic fibrosis in the United States during the early 1900s. In 1935, Andersen discovered lesions in the pancreas of an infant during an autopsy, which led her to classify a condition she named cystic fibrosis of the pancreas. In 1938, Andersen became the first to thoroughly describe symptoms of the medical condition cystic fibrosis.
Format: Articles
Subject: People
Doolan v. IVF America [Brief] (2000)
The implication of the court's decision was that Thomas Doolan's identity or personhood existed at the embryo stage in vitro, thus the fact that he was born with cystic fibrosis was not attributable to the decision of the in vitro fertilization providers to implant one embryo instead of another. The other unused embryo may not have carried the cystic fibrosis genes, but that other embryo was not Thomas Doolan. The decision in Doolan has not been publicly tested in other jurisdictions.
Format: Articles
Subject: Legal, Reproduction
Paretta v. Medical Offices for Human Reproduction [Brief] (2003)
The court decided a child of in vitro fertilization born with cystic fibrosis does not have the right to sue for wrongful life even in the presence of demonstrable acts of medical negligence because to allow such a case would grant the IVF child rights not possessed by naturally born children. The decision in Paretta has not been publicly tested in other jurisdictions.
Format: Articles
Subject: Legal, Reproduction
Sheldon Clark Reed (1910-2003)
Sheldon Clark Reed helped establish the profession of genetic counseling in the US during the twentieth century. In 1947 Reed coined the term genetic counseling to describe the interaction of a doctor explaining to a patient the likelihood of passing a certain trait to their offspring. With physicians being able to test for genetic abnormalities like cystic fibrosis, Reed helped trained individuals give patients the tools to make informed decisions. In 1955 Reed published the book Counseling in Medical Genetics.
Format: Articles
Subject: People
Preimplantation Genetic Diagnosis
Preimplantation genetic diagnosis (PGD) involves testing for specific genetic conditions prior to the implantation of an embryo in the uterine wall. This form of genetic screening has been made possible by the growth of in-vitro fertilization (IVF) technology, which allows for the early stages of development to occur in a laboratory dish rather than in vivo. The purpose of PGD is to identify what are considered to be abnormal embryos in order to select the most desirable embryos for implantation.
Format: Articles
Subject: Technologies, Reproduction
Francis Sellers Collins (1950- )
Francis Sellers Collins helped lead the International Human Genome Sequencing Consortium, which helped describe the DNA sequence of the human genome by 2001, and he helped develop technologies used in molecular genetics while working in the US in the twentieth and twenty-first centuries. He directed the US National Center for Human Genome Research (NCHGR), which became the National Human Genome Research Institute (NHGRI), of the US National Institutes of Health (NIH), located in Bethesda, Maryland, from 1993 to 2008.
Format: Articles
Subject: People
Chorionic Villus Sampling
Chorionic villus sampling (CVS) is a test used for prenatal diagnosis. Safe to perform at an earlier stage in pregnancy than amniocentesis, CVS is another invasive prenatal diagnostic test that can be performed as early as ten weeks after the woman's last menstrual cycle. While this test does carry some risks, it is generally very effective at predicting heritable diseases during or soon after the embryonic stage of development.
Format: Articles
Subject: Technologies
Ethics of Designer Babies
A designer baby is a baby genetically engineered in vitro for specially selected traits, which can vary from lowered disease-risk to gender selection. Before the advent of genetic engineering and in vitro fertilization (IVF), designer babies were primarily a science fiction concept. However, the rapid advancement of technology before and after the turn of the twenty-first century makes designer babies an increasingly real possibility.
Format: Articles
Subject: Ethics, Reproduction
Symptoms Associated with Polycystic Ovarian Syndrome (PCOS)
Polycystic ovarian syndrome or PCOS is one of the most common reproductive conditions in women, and its symptoms include cystic ovaries, menstrual irregularities, and elevated androgen or male sex hormone levels. During the 1930s, Irving Freiler Stein and Michael Leventhal identified the syndrome and its symptoms. Women who experience symptoms of PCOS may also experience secondary symptoms, including infertility and diabetes. Though estimates vary and the causes of the syndrome are not clear as of 2017, PCOS affects approximately ten percent of women of reproductive age.
Format: Articles
Subject: Disorders
"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
A Series of YouTube Videos Detailing the “CRISPR Babies” Experiment (2018), by He Jiankui
In 2018, He Jiankui uploaded a series of videos to a YouTube channel titled “The He Lab” that detailed one of the first instances of a successful human birth after genome editing had been performed on an embryo using CRISPR-cas9. CRISPR-cas9 is a genome editing tool derived from bacteria that can be used to cut out and replace specific sequences of DNA. He genetically modified embryos at his lab in Shenzhen, China, to make them immune to contracting HIV through indirect perinatal transmission from their father, who was infected with the virus.
Format: Articles
Subject: Publications, Experiments, Ethics
Irving Freiler Stein Sr. (1887–1976)
Irving Freiler Stein Sr. was a physician who studied women’s reproductive health during the twentieth century in the United States. In partnership with his colleague, Michael Leventhal, Stein identified a women’s reproductive disorder related to elevated male sex hormones, or androgens. The syndrome was originally called Stein-Leventhal syndrome and later known as polycystic ovarian syndrome. While studying the syndrome, Stein also helped establish a treatment for the condition, through the surgical removal of ovarian tissues.
Format: Articles
Subject: People
VACTERL Association
VACTERL association is a term applied to a specific group of abnormalities involving structures derived from the mesoderm. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. "VACTERL" is an acronym, each letter standing for one of the defects associated with the condition: V for vertebral anomalies, A for anal atresia, C for cardiovascular anomalies, T for tracheoesophageal fistula, E for esophageal atresia, R for renal anomalies, and L for limb defects.
Format: Articles
Subject: Disorders
“Endometriosis and Pelvic Pain: Epidemiological Evidence of the Relationship and Implications” (2005), by Arnaud Fauconnier and Charles Chapron
Arnaud Fauconnier and Charles Chapron published “Endometriosis and Pelvic Pain: Epidemiological Evidence of the Relationship and Implications,” henceforth “Endometriosis and Pelvic Pain,” in the journal Human Reproduction Update in 2005. In that article, the researchers studied the relationship between pelvic pain and endometriosis. Endometriosis is the growth of endometrium, or tissue that normally lines the inside of the uterus, outside of the uterus. The authors review medical studies in order to determine how much evidence exists that endometriosis causes chronic pelvic pain symptoms.
Format: Articles
Subject: Publications
Isotretinoin (Accutane) as a Teratogen
Isotretinoin is a molecule and a byproduct (metabolite) of vitamin A, and in greater than normal amounts in pregnant women, it can cause fetal abnormalities including cleft lips, ear and eye defects, and mental retardation. Isotretinoin is commonly called by its trade name Accutane, and it's a chemical compound derived from vitamin A, or retinoic acid. Doctors prescribe isotretinoin to treat severe acne. For pregnant women, too much vitamin A or isotretinoin can also cause greater than normal rates of stillbirths and fetal disintegrations after the ninth week of gestation.
Format: Articles
Subject: Reproduction, Disorders
Elizabeth Dexter Hay (1927–2007)
Elizabeth Dexter Hay studied the cellular processes that affect development of embryos in the US during the mid-twentieth and early twenty-first centuries. In 1974, Hay showed that the extracellular matrix, a collection of structural molecules that surround cells, influences cell behavior. Cell growth, cell migration, and gene expression are influenced by the interaction between cells and their extracellular matrix.
Format: Articles
Subject: People
Mesenchyme
Mesenchyme is a type of animal tissue comprised of loose cells embedded in a mesh of proteins and fluid, called the extracellular matrix. The loose, fluid nature of mesenchyme allows its cells to migrate easily and play a crucial role in the origin and development of morphological structures during the embryonic and fetal stages of animal life. Mesenchyme directly gives rise to most of the body's connective tissues, from bones and cartilage to the lymphatic and circulatory systems.
Format: Articles
Subject: Processes
Stafford Leak Warren (1896–1981)
Stafford Leak Warren studied nuclear medicine in the United States during the twentieth century. He used radiation to make images of the body for diagnosis or treatment and developed the mammogram, a breast imaging technique that uses low-energy X-rays to produce an image of breasts. Mammograms allow doctors to diagnose breast cancer in its early and most treatable stages.
Format: Articles
Subject: People
“Invasive and Non-invasive Methods for the Diagnosis of Endometriosis” (2010), by Albert L. Hsu, Izabella Khachikyan, and Pamela Stratton
In 2010, Albert L. Hsu, Izebella Khchikyan, and Pamela Stratton published “Invasive and Non-invasive Methods for the Diagnosis of Endometriosis,” henceforth “Methods for the Diagnosis of Endometriosis,” in Clinical Obstetrics and Gynecology. In the article, the authors describe how specific types of endometriotic lesions appear in the body and evaluate five methods for diagnosing endometriosis. Endometriosis is the growth of endometrium, the tissue that normally lines the inside of the uterus, outside of the uterus.
Format: Articles
Subject: Publications