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.
The Human Genome Project
The Human Genome Project, declared complete in April 2003, identified and mapped the genes in the human genome. It is estimated that humans have between 20,000 - 25,000 genes.
This monumental task provided the foundational knowledge necessary for advances in genetics, medicine, and biology, enabling researchers to begin to understand the genetic basis of human diseases and traits.
Scientists continue to refine and add details to the human genome map, as some regions are complex and more difficult to sequence. Ongoing research is deepening our understanding of the genome, including variations and functions of genes and non-coding regions.
How does the genome relate to familial Alzheimer’s Disease?
Familial Alzheimer's disease (FAD) is caused by specific mutations within a person's genome.
By identifying the mutations associated with FAD, scientists have gained insight into how the disease works, paving the way for targeted treatments and prevention strategies for not only those with FAD, but also for those with sporadic Alzheimer's.