Human Genome, Development, Evolution and Aging

In this introductory chapter, we will briefly describe the genetic basis of the variation of human populations and individuals, which contributes to disease risk and speed of aging. Most recent information on human genome variations are based on big biology consortia like the 1000 Genomes project or the UK Biobank. Genome-wide genotyping and whole genome sequencing allow the study and analysis of complex diseases on the basis of dozens to hundreds of genetic variants, such as single nucleotide variants (SNVs) and copy number variations (CNVs), in regulatory and coding regions of genes. Next, we discuss the principles of (embryonic) development and stem cells. In this context we introduce aging as the natural progressive decline in the function of cells, tissues and organs that leads to impaired functions of the body. Accordingly, older age is the primary risk factor for numerous non-communicable diseases. Major hallmarks of aging are cellular senescence, genome instability, epigenetic alterations and telomere attrition, which we discuss in more detail in following chapters.