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Encyclopedia > Medical genetics

Medical Genetics is the application of genetics to medicine. Medical genetics is a broad and varied field. It encompasses many different individual fields, including clinical genetics, biochemical genetics, cytogenetics, molecular genetics, the genetics of common diseases (such as neural tube defects), and genetic counseling. Genetics (from the Greek genno γεννώ= give birth) is the science of genes, heredity, and the variation of organisms. ... This article is about the field and science of medical practice and health care. ... ... Molecular biology is the study of biology at a molecular level. ... A metaphase cell positive for the bcr/abl rearrangement using FISH Cytogenetics is the study of the structure of chromosome material. ... Molecular genetics is the field of biology which studies the structure and function of genes at a molecular level. ... The neural tube is the embryonal structure that gives rise to the brain and spinal cord. ... Genetic counseling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or...


Each of the individual fields within medical genetics is a hybrid. Clinical genetics is a hybrid of clinical medicine with genetics. Biochemical genetics is a hybrid of biochemistry, mainly of amino acids and proteins, with genetics. Molecular genetics is a hybrid of the biochemistry of DNA and RNA with genetics. Cytogenetics is a hybrid of cytology and genetics; it involves the study of chromosomes under the microscope. Genetic counseling is a hybrid of genetics and nondirectional counseling. Biochemistry is the study of the chemical processes and transformations in living organisms. ... In chemistry, an amino acid is any molecule that contains both amino and carboxylic acid functional groups. ... A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... The general structure of a section of DNA Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions for the biological development of a cellular form of life or a virus. ... Ribonucleic acid (RNA) is a nucleic acid polymer consisting of nucleotide monomers. ... Cytology (also known as Cell biology) is the scientific study of cells. ... This article is about the biological chromosome. ...

Contents

Nomenclature

Human genetics differs from medical genetics in that human genetics may or may not apply to medicine, but medical genetics always applies to medicine. The study of Huntington disease (a progressive neurologic disease) is properly part of both human genetics and medical genetics, whereas the study of eye color (except in situations such as albinism) is part of human genetics but not medical genetics. A karyotype of a human male, showing 46 chromosomes including XY sex chromosomes. ... Albinism (from Latin albus, meaning white) is a lack of pigmentation in the eyes, skin and/or hair. ...

  • Genetic medicine is a newer term for medical genetics.

A Short History

Although genetics has its roots back in the 19th century with the work of the Bohemian monk Gregor Mendel and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century. Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism, brachydactyly (short fingers and toes), and hemophilia. Mathematical appoaches were also devised and applied to human genetics. Population genetics was created. Alternative meaning: Nineteenth Century (periodical) (18th century — 19th century — 20th century — more centuries) As a means of recording the passage of time, the 19th century was that century which lasted from 1801-1900 in the sense of the Gregorian calendar. ... Gregor Johann Mendel (July 20[1], 1822 – January 6, 1884) was an Augustinian abbot who is often called the father of modern genetics for his study of the inheritance of traits in pea plants. ... (19th century - 20th century - 21st century - more centuries) Decades: 1900s 1910s 1920s 1930s 1940s 1950s 1960s 1970s 1980s 1990s As a means of recording the passage of time, the 20th century was that century which lasted from 1901–2000 in the sense of the Gregorian calendar (1900–1999... Brachydactyly is a medical term which literally means shortness of the fingers and toes (digits). ... Haemophilia or hemophilia is the name of any of several hereditary genetic illnesses that impair the bodys ability to control bleeding. ... Population genetics is the study of the distribution of and change in allele frequencies under the influence of the four evolutionary forces: natural selection, genetic drift, mutation, and migration. ...


Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had fallen into disrepute. The Nazi misuse of eugenics sounded its death knell. Shorn of eugenics, a scientific approach could be used and was applied to human and medical genetics. Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the 21st century. Combatants Major Allied powers: United Kingdom Soviet Union United States Republic of China and others Major Axis powers: Nazi Germany Italy Japan and others Commanders Winston Churchill Joseph Stalin Franklin Roosevelt Harry Truman Chiang Kai-Shek Adolf Hitler Benito Mussolini Hideki Tojo Casualties Military dead: 17,000,000 Civilian dead... It has been suggested that Dysgenics be merged into this article or section. ... The 21st century is the present century of the Gregorian calendar. ...


Organizations

The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the American Society of Human Genetics. The Society first began annual meetings that year (1948) and its international counterpart, the International Congress of Human Genetics, has met every 5 years since its inception in 1956. The Society publishes the American Journal of Human Genetics on a monthly basis. The International Congress of Human Genetics is the foremost meeting of the international human genetics community. ... Since its inception in 1948, The American Journal of Human Genetics has provided a record of research and review relating to heredity in humans and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology. ...


Medical genetics is now recognized as a distinct medical specialty in the U.S. with its own approved board (the American Board of Medical Genetics) and clinical specialty college (the American College of Medical Genetics). The College holds an annual scientific meeting, publishes a monthly journal, Genetics in Medicine, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics. Logo of the American College of Medical Genetics The American College of Medical Genetics (ACMG) is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics. ...


External links

Subfields of genetics
v  d  e
Classical genetics | Ecological genetics | Molecular genetics | Population genetics | Quantitative genetics
Related topics: Geneticist | Genomics | Medical genetics | Reverse genetics | Molecular evolution

 
 

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