Manifesting non-manifesting carriers

Fantastic blog from one of our favourite researchers Dr Simon Stott who is heading the research team at Cure Parkinson’s in the UK. The date of the blog says August 2023 but it only came out last week and we are eager to share with our community. Here is the the introduction for the topic: The discovery of genetic risk factors for Parkinson’s has been very useful for the research community as they point towards associated biological pathways that could potentially be targeted for therapeutic intervention. They also represent a topic of concern for the Parkinson’s community, who worry about passing on possible risk to their children and subsequent generations. The penetrance (which refers to the proportion of people with a particular genetic variant who ever actually exhibit signs and symptoms of a particular condition) of many of these risk factors has, however, been found to be mixed, which has helped to confuse the matter. Recently, researchers have been exploring assays and biomarkers related to some of these genetic risk factors to see if we can determine who is likely to go on and develop Parkinson’s compared to “non-manifesting carriers” of the genetic risk factors. In today’s post, we will discuss what is meant by terms like “penetrance” and “non-manifesting carriers”, and we will review some of the latest research in this area. Read the full blog by clicking the attached link.