Tag: genetics
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Gregor Johann Mendel, father of modern genetics (1822–1884)
Gregor Mendel was an Austrian scientist and Augustinian friar who laid the foundation of the science of heredity and genetics. Although his contributions to science were not widely recognized during his life, his work with pea plants in the mid-19th century revolutionized our understanding of how traits are inherited across generations, thus greatly influencing medicine,…
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The bicycle and the gene pool
Howard FischerUppsala, Sweden “The most important event in recent human evolution was the invention of the bicycle.”1– Steve Jones, biologist The invention of a safe, reliable, and relatively cheap bicycle occurred at the end of the nineteenth century. Called a “hugely disruptive technology,” the bicycle permitted the “masses to be mobile.”2 A bicycle was cheaper…
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John Hunter, his wolf dogs, and the inherited smiles of Pomeranians
Stephen MartinUnited Kingdom John Hunter, 1728-1793, was a polymathic doctor. Besides being an anatomist and clinician, he was also interested in early genetics, exemplified by his “Observations tending to shew that the Wolf, Jackal, and Dog, are all of the Same Species.”1 Hunter presented this paper to the Royal Society in 1787. (Fig 1) His…
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“Am not I a fly like thee?” Drosophila melanogaster and the human genome
Marshall A. LichtmanRochester, New York, United States Animal models have been essential to medical research for millennia. Ethical concerns about their use has led to a decrease in use of large animals (e.g., dogs, cats). Perhaps the smallest of research animals is Drosophila melanogaster, a fruit fly, one tenth inch in length, which has contributed…
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Medicean optics: An analysis of Raffaello’s Portrait of Pope Leo X and Two Cardinals
Vincent P. de Luise New Haven, Connecticut, United States Myopia, or nearsightedness, is the most common global eye disorder of refractive error, with significant global public health consequences.1 Along with cataract, macular degeneration, infectious disease, and vitamin A deficiency, myopia is one of the most important causes of visual impairment worldwide.1 In the United States, approximately…
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Heterozygous advantage: How one deadly disease prevents another
Neal KrishnaBoston, Massachusetts, United States Of all the genetic disorders to which man is known to be a victim, there is no other that presents an assemblage of problems and challenges quite comparable to sickle cell anemia. Because of its ubiquity, chronicity, and resistance to treatment, sickle cell anemia remains a malady whose mitigation and…
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Ludwik Hirszfeld: The story of one life that changed thousands of others
Paulina KowalińskaWrocław, Poland “To a far greater extent the group reactions have been used in forensic medicine for the purpose of establishing paternity. The possibility of arriving at decisions in such cases rests on the studies of the hereditary transmission of the blood groups; the principal factural results in this field we owe to the…
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A legacy of pain: Heredity and migraines
Terri SinnottChicago, Illinois, United States A reporter doing a story on migraines asked me about my family’s tendencies toward them.1 With a bit of dark humor, I pointed to a family picture and said, instead of identifying them by name, that I would identify them by the treatments they use at a migraine’s onset. Left…
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Madge Thurlow Macklin: Medical genetics
William LeemingCanada Most histories on the subject say that the name “medical genetics” was coined in 1932 by Madge Thurlow Macklin.1 But as it so happens, the term first appears in a book by the English polymath Lancelot Hogben, Genetic Principles in Medicine and Social Science: “Whatever views one may entertain concerning the urgency of…