It's been an action-packed week-and-a-half or so in the world of genetic science and medicine. Though the age of genetic cures is likely a good decade or two...or more away, THIS is the golden-age of genetic discovery. The pace of genetic EUREKA moments is quickening with a brand new rare disorder discovered just about very week to ten days, and new mutations for previously described disorders hitting the journals almost daily. It's why I stated "Mutation Watch" - to delve into the breakthroughs, the scientists and organizations behind them, the science behind the discoveries, and the patients and families whose lives stand to be transformed... Saul-Wilson Syndrome - an ultra-rare disorder (less than 20 people have been diagnosed globally), characterized by short stature, microcephaly, hearing loss, developmental delays, and a predisposition to cataracts among its symptoms - HAS BEEN DECODED, and what a pleasure to see this wonderful piece of genetic detectivism featured prominently in the publication Newsweek. Before the science, let's proceed with the heartening, emotional impact of this breakthrough.

In this chapter, we report the first experimental explorations of reinforcement learning in Tourette syndrome, realized by our team in the last few years. This report will be preceded by an introduction aimed to provide the reader with the state of the art of the knowledge concerning the neural bases of reinforcement learning at the moment of these studies and the scientific rationale beyond them. In short, reinforcement learning is learning by trial and error to maximize rewards and minimize punishments. A large body of evidence suggests that the dysfunction of the same neural systems is implicated in the pathophysiology of Tourette syndrome. Our results show that Tourette condition, as well as the most common pharmacological treatments (dopamine antagonists), affects reinforcement learning performance in these patients.