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Genetics is the science concerned with the materials and modes of inheritance, broadly the study of the biological materials transmitted between generations of organisms. The simple aphorism that genetics explains ‘like begets like’ does not portray the more complex questions answered by this science: What is the genetic material (genes)? By which modes is it transmitted by parents to their offspring? How do genes program development and physiology? How do genetic traits lead to both similarity and differences between relatives? Over the course of over 150 years, this science has developed through the study of model systems (bacteria, viruses, plants, animals) and humans, and shown that it is key to the understanding of human disease. Since 2000, we have elucidated the sequence structure of the human genome and other model system genomes, the chromosomal collection of all genes of an organism, to fundamentally alter the mode and tempo of genetic discoveries.
Human genetics today is fundamental to the practice of medicine, leading to rapid changes in our understanding of the mechanisms of human disease, disease diagnosis and emerging therapeutics. This guide serves to identify a set of resources to introduce genetics and genomics, to trainees and practitioners of biomedical science.