Fundamentals of Human Genetics

From the notion of a type-specimen for a species to a wild-type mouse strain, biology has long relied on the idea of an archetype. In reality, however, there is variation everywhere one looks—no wild-type, only mutants. This variation is what makes some families taller than others or more susceptible to autism. Making sense of these differences is what led from the study of “the” human genome to that of millions of genomes. Notably, this goal is central to precision medicine, undergirding accurate disease risk prediction and tailored individual treatments. This shift in perspective poses new and fundamental questions, challenging us to understand how genetic perturbations and environmental effects together give rise to human difference. The goal of this course is to provide a basis for the study of such questions, by focusing on the causes and consequences of human genetic variation. It aims to provide a fundamental toolbox with which to approach human genetic data and to facilitate access to exciting developments in the field, from weekly discoveries about our prehistory to major developments in our understanding of the genetic basis for disease risk. The basis for the course is a new, freely available textbook, An Owner’s Guide to the Human Genome, by Jonathan Pritchard.