An Exciting 10 Days (Or So) In Genetic Discovery

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.