Molecular Genetics

Part II of the course focuses more deeply on the Human Genome, and serves to direct our attention to the genes and gene families in our genome that are ultimately responsible for disease (both 'simple' and 'complex' diseases). In this section we explore fully the ENCODE Project Consortium and its discovery of a dynamic human genome, in stark contrast to previous estimates of "junk DNA". The ENCODE project's results and extensive data sets provide a deep look into this "junk DNA" and reveal instead a transciptionally and functionally active genome, with direct implications for disease (in concert with epigenetics and the Epigenome - HEP for Human Epigenome Project). We will also review a few, classic disease genes with their associated simple and complex syndromes, and examine especially the genetic variants (SNPs to CNVs to Structural) contributing to disease and pahtology.

Part III focuses on the underlying genetic theory and practice of the popular 23andMe service for assessing ancestry and disease risks associated with SNP patterns in individual genomes.

The last part of the course (Part IV) presents modern Medical Genetics and Molecular Pathology; we will examine the history and genetic causes of certain diseases, and relate this scientific endeavor back to the Human Genome Project and the ENCODE Project and its UCSC page (also available from European Bioinformatics Intitute's Ensembl).

Throughout the course, we will emphasize experimentation and bioinformtics as the primary means of generating and validating data to test hypotheses; so we will examine the theoretical basis for a some key methods. Understanding these methods facilitates the development of skills in designing a good experiment, or critically evaluating the data in a journal article, or diagnosing a particular constellation of symptoms as a specific disease. Information and discussions from both the lecture and lab will help you to become thoroughly familiar with some of these basic techniques and concepts.