Non-Animal Model Developed for a Rare Neurodegenerative Condition

Cockayne Syndrome (CS) is a rare genetic disorder characterized by the failure to grow and gain weight at the expected rate, premature aging, sensitivity to sunlight, and impaired development of the nervous system. While a number of mouse models have been created to study the condition, they have failed to display the disorder’s classic neurological symptoms.

Aware of these limitations, a research team led by Dr. Alysson Muotri, associate professor of Pediatrics and Cellular and Molecular Medicine at the University of California, decided to take a different approach. According to Dr. Muotri, “What we have needed is a robust human in vitro cellular model – a so-called ‘disease in a dish’ – that would allow us to understand fundamentally what is happening and which could point us toward possible therapeutic targets and treatments.”

Building on a human-relevant approach that his lab previously used to create neuronal models of autism spectral disorders, Muotri and his team generated a new in vitro model of CS by taking skin cells from individuals with the disorder and reprogramming them to induced pluripotent stem cells, which were ultimately differentiated into neurons.

Many striking differences were observed in the neurons from individuals with CS compared to unaffected individuals. Researchers noted gene expression differences, particularly in pathways regarding the way that neurons connect to each other. They also discovered that the cells showed altered electrophysiological activity and had fewer connections to other neurons, compared to the control.

Dr. Muotri and his team are pleased that their “results prove feasibility and demonstrate utility of [a] new in vitro human model of CS neuropathology” while serving as an innovative alternative to existing in vitroand in vivo CS models. We look forward to gaining more insight into CS with this human-relevant model, and to the development of other similar models that will lead to smarter, more human-relevant science, sparing countless animal lives.

What are your thoughts on the development of disease-in-a-dish models for neurodegenerative conditions as human-relevant alternatives to animal studies? Send your questions and comments to I look forward to hearing from you.

–Dr. Pam Osenkowski, Director of Science Programs

First human in vitro model of rare neurodegenerative condition created
January 13, 2016

Researchers at University of California, San Diego School of Medicine and Rady Children’s Hospital-San Diego have created the first stem cell-derived in vitro cellular model of a rare, but devastating, neurodegenerative condition called Cockayne syndrome (CS).

For more information see: UC San Diego Health

This entry was posted in News and tagged on February 1, 2016.
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