个性化医疗案例研究

The first module of this course will focus on introducing the concept of personalized medicine. We will very briefly review fundamentals of genetics as these apply to personalized medicine (DNA structure; RNA; protein structures; function of DNA; coding; DNA variations; types of genetic variants), as well as review statistical concepts and skills important to clinical data analysis (odds ratios, relative risk, P values, multiple testing, sensitivity, specificity, ROCs). In Module 2 we will explore drug actions and reactions as we look closely at the general mechanisms underlying variability in drug responses, drug metabolism and transport, and genetic variability in drug-handling molecules.

Module 3 focuses on how we study genetic variation. We'll start by looking at families and populations. Topics that will be introduced include family history and inheritance patterns, ancestry, and linkage. Then in Module 4 we shift our focus to studying the contemporary techniques and technologies used to study genetic variation, including genome-wide association and sequencing.

In Module 5 we will begin to discuss specific cases as these apply to personalized medicine. We will first look very closely at a case of familial hypercholesterolemia as we investigate how we use genomic medicine to move from a rare disease to a common medication, using genomics to find new drug targets, and a discussion of the side effects of statin therapy. In Module 6 we will look at a collection of "high risk pharmacogenetics"cases that illustrate adverse reactions due to drug metabolism and variable drug responses.

Module 7 continues our focus on case studies with a look at some cases that illustrate how personalized medicine informs treatment decisions related to specific diseases/conditions. These include cystic fibrosis, Marfan syndrome, heart failure, neuropsychiatric diseases, and diabetes. Three cases/lessons focus specifically on how genomic medicine informs testing for and treatment of cancer.