Proof of Concept

In 2008, while still at the Harvard Stem Cell Institute, iPierian scientist John Dimos led a team that created iPS cells from the skin cells of an 82-year-old patient with amyotrophic lateral sclerosis (ALS or Lou Gehrig’s Disease) and differentiated these reprogrammed cells into motor neurons and glial cells, the cell types that are destroyed in ALS. These patient-derived iPS cells, and the motor neurons and glial cells made from them, were shown to contain all the genetic information that led to disease in the patient. Such reprogrammed and differentiated cells can be used to build more predictive and relevant model systems amenable for interrogating disease mechanisms and discovering new therapeutics.

Previously, only the familial form of ALS, representing only 10 percent of all ALS patients, could be reduced to a model system. However, iPS cells can be generated from patients representing all types of ALS, making it possible for the first time to study truly relevant model systems that represent all types of ALS, including those that are thought to arise from complex interactions between genes and the environment. This work was cited as part of the 2008 Breakthrough of the Year by Science Magazine.