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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

"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

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

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

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

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