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. 

There are a few seemingly miraculous people who have an FAD mutation who have not developed the disease, decades after their anticipated age of symptom onset. Learn more about these individuals, and what they have taught us about the disease.

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.

Chromosomes serve as storage centers for our genetic information. They house DNA, the molecule that carries genetic instructions. Chromosomes consist of long, threadlike strands that are tightly coiled. 

Dementia is an umbrella term used to describe the symptoms associated with brain diseases like Alzheimer’s and other conditions. Alzheimer’s disease is a specific brain disease that causes dementia.