Stem Cells in Modeling Human Genetic Diseases

Abstract

With the generation of induced pluripotent stem cells (iPSCs) derived from adult cells, it is now possible to understand the mechanisms of a genetic disease and potentially identify targets for a disease-specific treatment. It is a long journey from “the bench to the bedside”; however with the available technology, it is possible to identify more suitable treatments than ever before. In this chapter, we will focus on discussing how iPSCs can model a heterogeneous disease known as spinocerebellar ataxia (SCA) and the importance of these studies to understand the disease mechanisms and potentially how a treatment could be achieved.