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Stem Cells in Focus

Making Sense of Disease – In a Dish

By Maya Chaddah | March 6, 2014
Expert Contributor: Kevin Eggan, PhD

Stem cell research is revolutionizing the way scientists study human disease in many ways. One of the most fascinating, is through the creation of human “diseases in a dish,” which are giving scientists a better way to study disease biology and test new drugs.

Stem Cells in Focus Webcast

Disease Modeling with iPS Cells: Diseases in a Dish Explained

Kevin Eggan, PhD, Harvard Stem Cell Institute, USA

Learn more about the research and its potential, and pose your questions directly to Dr. Eggan, during live public webcast, Thursday, March 13 at 2 pm ET (USA).


Many of the current advancements in disease modeling stem from Dr. Shinya Yamanaka’s discovery of induced pluripotent stem cells (iPS cells) in 2006. He and others figured out that they could turn adult skin cells into embryonic-like stem cells, capable of creating all the different organs and tissues in the adult body. Since that time, iPS cells have been used to model diseases outside the human body, allowing scientists, who previously relied on testing in animals, a much better canvas on which to study disease and potential treatments.

Dr. Kevin Eggan, from the Harvard Stem Cell Institute, studies amyotrophic lateral sclerosis (ALS), an incurable neurological condition, and psychiatric disorders such as schizophrenia, through the use of iPS cells. In 2008, his lab showed that it was possible to turn iPS cells from people with ALS into motor neurons, the cells that are damaged during the course of the disease. Dr. Eggan is hoping this will help him to solve the mystery of how different causes can lead to the same disease in different patients or how the same mutation can cause a very different disease altogether.

For example, patients with ALS can have mutations in any one of 20-30 different genes. Instead of going through the laborious and expensive process of making mouse models that emulate every one of those mutations, he can instead make iPS cells from human patients with different mutations, and turn them into motor neurons to study how particular mutations can affect disease biology and change its trajectory. These iPS models are equally as valuable in patients with psychiatric disorders, such as schizophrenia and autism, where many genes may be involved together.

The process of exploring disease and then developing and testing treatments, often referred to as clinical translation, is lengthy and complicated. It requires rigorous pre-clinical testing in animals and then multi-phase clinical trials in humans. Using iPS disease models allows scientists to explore drug discovery with diseased human cells, in addition to animal testing, which leads to a more efficient clinical translation process.

In addition to ALS and schizophrenia, researchers have also developed iPS cell disease models for many other diseases, including heart, blood and eye diseases, Alzheimer’s disease, diabetes and spinal muscular atrophy.

With iPS cell technology, the research community now has an incredible opportunity to model human disease in a dish and also to test candidate drugs on the actual cells that get sick. As scientists learn better ways to turn human-derived iPS cells into distinct cell types, and grow them in large numbers, they should have a steady supply of diseased cells to study, bringing clarity to the individuality of disease and identifying new approaches for treatment.

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