What genetic diseases are associated with fathers age

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Unformatted text preview: .  Why does oogenesis in females end during fetal life, whereas spermatogenesis in males continues into old age? What genetic diseases are associated with father’s age? Such detailed objectives may seem to be asking too much. They are, however, simpler and more directly relevant to medicine than other proposed learning objectives such as the principles of quantum mechanics, and being able to explain how molecular structure is determined by X-ray diffraction. The above list could easily be expanded and re ned. We hope others will attempt to do that. Medical Competencies The AAMC-HHMI report lists eight competencies to be attained in medical education, including applications of physics and chemistry (M2) and genetics (M3). It does not include any speci c applications of evolution. Competency M1 is “apply knowledge of molecular, biochemical, cellular, and systems-level mechanisms that maintain homeostasis, and of the dysregulation of these mechanisms, to the prevention, diagnosis, and management of disease.” This describes the application of proximate knowledge to the body and disease. A parallel competency to bring in the evolutionary half of biology, perhaps M1b, would be “apply knowledge of evolutionary factors that have shaped the body and its regulatory systems to the prevention, diagnosis, and management of disease.” Learning Objectives for Medical Competencies in Evolutionary Biology 1. Explain what is meant by facultative adaptation (phenotypic plasticity) and how such adaptations are shaped by natural selection.  Explain tanning in response to sunlight.  Explain the effects of early life experiences of caloric deprivation and stress on later metabolism and how you would investigate if these effects are facultative adaptations or something else. 2. Explain how to calculate heritability and what it means.  Height is highly heritable, yet genomewide association studies have so far found no common genetic variants that account for more than a few percent of the variation for height. Explain.  Explain why high heritability for a common disease is likely to indicate strong effects of novel environmental factors. 3. Describe why the concept of tradeoffs means that no trait in the body can be perfect.  A strong immune response would seem to be useful. Explain tradeoffs and other reasons why we remain so vulnerable to infection.  A narrow birth canal has serious costs to mother and infant. What evolutionary tradeoffs likely account for the narrowness of the birth canal? 4. Understand the role of modern environments in causing certain diseases. 1804 | www.pnas.org/cgi/doi/10.1073/pnas.0906224106  The past hundred years have seen an “epidemiological transition” in which chronic disease has come to overshadow acute infectious disease. Describe the responsible chronic diseases, the reasons for this transition, and why our bodies are ill-suited for some aspects of our modern environment.  Describe how the rise of agriculture has in uenced disease vulnerability and if there is evidence that agriculture has changed genotypes. 5. Describe how path dependence makes evolved bodies fundamentally different from designed machines.  The human spine is a source of much trouble; propose some possible evolutionary explanations.  A twisted omentum can cut off blood supply to the gut. Describe the evolutionary reasons for human vulnerability to volvulus and a comparative test of your hypothesis. 6. Demonstrate understanding of how methods for tracing phylogenies can be applied to genetic data.  Show how to use genetic data to determine which of several possible pathogen populations is the most likely source of a patient's infection.  Describe how genetic data can be used to show our relatedness to other primates. 7. Explain how coevolution of hosts and pathogens results in arms races that shape traits prone to contribute to disease.  Streptococcus has evolved with primates for millions of years. Describe a disease complication that may arise from the coevolution of host defenses and pathogen strategies.  Cholera kills by dehydration. Describe the proximate mechanism and the selective processes likely to have shaped it. Use this information to comment on the likely costs and bene ts, for pathogen and host, of using drugs to block this mechanism. 8. Understand how the absence of pathogen exposures can cause disease.  Why does normal development of the vertebrate gut require the presence of signals from gut bacteria?  What are some medical consequences of modern hygiene and antibiotics that eliminate such signals?  Describe why the absence of helminths in the human gut is associated with certain diseases. 9. Demonstrate understanding of the processes that shape pathogen virulence and antibiotic resistance.  Antibiotic resistance can emerge and spread in just a matter of months. Describe the responsible proximate and evolutionary factors.  Explain why pathogens spread by vectors such as mosquitoes tend t...
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This document was uploaded on 01/31/2014.

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