Genetic Variability and Disease Consequences

This lecture discusses the impact of mutations on disease development, ranging from rare alleles causing Mendelian diseases to common variants with small effect sizes. It explores the importance of genetic variability in medicine, highlighting how susceptibility variants can lead to new therapeutic targets, improved personalized medicine, and better disease prognosis. The consequences of mutations on gene expression and epigenetic mechanisms are also examined, emphasizing the distinction between cis and trans effects in gene regulation.