Pathogenicity, penetrance, and de novo are scientific terms that come up often when reading about genetic mutations. What do they mean?

Genes contain the code or instructions necessary for the body's development and function. Humans have around 20,000 genes spread across their 23 pairs of chromosomes. 

Explore stories of people with FAD mutations who have not developed symptoms long past expected onset, revealing insights into familial Alzheimer’s disease and resilience factors.

A genome is the complete set of genetic instructions fundamental to the development and function of an organism. It encompasses all the genes across the 23 pairs of chromosomes in humans, acting as a detailed instruction manual for making and maintaining an individual. Chromosomes serve as chapters in this manual, with genes as the step-by-step directions for various biological processes.

“Genetic variant” and “genetic mutation” typically mean the same thing. The term “variant” is the more up-to-date and accurate version of the label. But here at Youngtimers, we choose to call them mutations. In this article, we’ll explain why.

While dementia refers to symptoms from brain diseases, Alzheimer’s is a specific condition that causes dementia and remains its most common form worldwide.