Sense, Missense or Nonsense - Interpreting Genetic Research in Autism (TCF4, TSC2 , Shank3 and Wnt)
Some clever autism researchers pin their hopes on genetics, while some equally clever ones are not convinced. One big problem is that genetic testing is still not very rigorous, it is fine if you know what you are looking for, like a specific single gene defect, but if it is a case of find any possible defect in any of the 700+ autism genes it can be hopeless. Most of the single gene types of autism can be diagnosed based on known physical differences and then that specific gene can be analyzed to confirm the diagnosis. Today’s post includes some recent examples from the research, and they highlight what is often lacking - some common sense. There are numerous known single gene conditions that lead to a cascade of dysfunctions that can result in behaviors people associate with autism. However in most of these single gene conditions, like Fragile X or Pitt-Hopkins, there is a wide spectrum, from mildly affected to severely affected. There are various different ways in which a gen...