This is a short, high-intensity course of genomics, bioinformatics, and their application to modern medicine. The course will run over the course on 1 week, with the following schedule:
Day 1: Monday, May 12 - 10:00 to 16:00, 1h lunch break (13:00 - 14:00). On this day we will discuss the overall progress in life sciences over the last century, and the key methods that have driven the changes in our understanding of living things. Following this, we will have a crash course on the human genome: its chemical and biophysical architecture, variability, inheritance patterns, among many other things. We will also begin to discuss DNA sequencing, and how the ongoing sequencing revolution in sequencing methods has changed the reality of life science research as well as daily medical practice.
Day 2: Tuesday, May 13 - 10:00 to 16:00, 1h lunch break (13:00 - 14:00). On day 2 we will discuss medical genetics and hereditary diseases. We will review different modes of inheritance, different types of variants in the human genome, and learn how genome sequencing has changed the diagnostics of rare diseases. We will also learn the difference between genotyping (e.g. 23andMe) and genome sequencing, whole-genome and whole-exome sequencing, and GWAS and RVAS. Finally, I will tell you a story about a mysterious disease that tracks back to a wealthy Venetian family 200 years ago, and a daring story of a modern couple looking to find a cure for this disease, while working against the clock of fate.
Day 3: Wednesday, May 14 - 10:00 to 16:00, 1h lunch break (13:00 - 14:00). During day 3 we will learn how modern technological advances have changed the face of drug development and the pharmaceutical industry. Starting with some historical examples, we will see what general strategies were used to discover novel drugs, and how modern biotechnological advances create whole new types of drugs. We will discuss the different types of drug targets, what are the “undruggable” targets, and how modern research can challenge even the hardest problems and seemingly incurable diseases.
Day 4: Thursday, May 15 - 10:00 to 16:00, 1h lunch break (13:00 - 14:00). During this day we will learn about the latest advances in cellular biology related to spatial and single-cell genomic and transcriptomic methods. We will discuss how gene expression can be used as a proxy of a cell's phenotype, and how it can inform therapy and drug development. Finally, we will revisit the story of a family trying to cure a mysterious disease, and see how modern methods can give hope to patients for which there is no alternative.
Day 5: Friday, May 16 - 10:00 to 14:00, no break. During this day we will learn numerous stories of caution, which should teach you how to treat some of the loudest research announcements with respectful suspicion. You will learn several very important questions that need to be asked when “big” data is presented to you, and how simple errors or lack of statistical rigor can change research conclusions to the exact opposite. Finally, we will have a simple multiple-choice exam that is expected to test the knowledge and understanding of the concepts that I discussed during the previous week.
- Docente: Alexander Predeus