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This document provides an introduction to genetics and molecular medicine as well as a history of medical genetics. It discusses key topics like nucleotides, the central dogma of genetics, protein synthesis, mitosis, meiosis, genetic disorders and mutations. Important figures mentioned include Gregor Mendel who established the foundations of genetics, Thomas Hunt Morgan who discovered genes are arranged on chromosomes, Francis Crick and James Watson who discovered the double helix structure of DNA, and Stanley Cohen and Herbert Boyer who developed recombinant DNA techniques.

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Trude Schwarzacher Plenary talk at European Cytogenetics Conference, Strasbourg, July 2015, to commemorate 150 years since publication of Gregor Mendel's work on the laws of genetic inheritance in 1865. This was two decades before chromosomes were described. 2015 marks the 150th anniversary of the presentation and publication of Mendel’s seminal paper presenting his Laws of Heredity. One expects that the unexciting and uninformative title Versuche über Pflanzenhybriden (Studies of plant hybrids) in his paper was one reason it was ignored – the importance of a paper title for finding work is something we have discussed here on AoBBlog and regularly among Annals of Botany Editors! In the Slideshare talk, Trude Schwarzacher discussed research in Mendel’s time, when ‘blended inheritance’ was accepted, and then how Mendel came to carry out the work. Not least, he was taught by the physicist Christian Doppler at the University of Vienna, no doubt implanting the centrality of numeracy and what we now consider statistics, to understanding all phenomena, including those of biology. Trude also points out that of the seven characters Mendel worked with in pea, two are still very relevant to breeding of modern crops: the terminal flowering character, and dwarfism of the whole plant. The synthesis of the results in Mendel’s original paper, even today, is remarkable with considerable interpretation and presentation of a general model of inheritance: I do wonder how many modern referees would quibble about "unsubstantiated extensions"? Trude discusses Mendel’s interactions with another important botanist of the time, Karl Wilhelm Naegeli of Munich; in some ways, though, this was unfortunate in that firstly, it is not clear how much Naegeli understood the significance of Mendel’s genetical results and the laws of heredity, and also had the suggestion to work with the hawkweeds, genus Hieraceum, which includes many polyploids and apomicts. Hardly a model species to use to understand the principles of genetic inheritance, and no doubt disheartening for the Monk by then working in Brno! The final section of Trude’s talk puts Mendel’s work into the context of chromosomes, as might be expected in a cytogenetics conference, although cell division and chromosomes were not described until later in the 19th century – the slideshare embedded above shows some images from these early work, with more recent results from her own lab.

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