Disease-in-a-dish takes autism research to the next level

As a result of the delay in autism treatment, scientists propose ‘disease-in-a-dish’ approach to speed up the progress.

A research team at the University of California in San Diego believe that reprogrammed cells from patients with autism could be an alternative to unreliable animal models. It would allow scientists to capture a patient’s genome in relevant cell types and understand common forms of the disease.

Neuroscientist, Professor Alysson Muotri who specialises in the study of autism said: “Autism is a multifactorial human condition and extremely difficult to replicate in a mouse or a monkey to any meaningful degree. To accelerate progress in tackling autism, it’s time for a paradigm shift in the way we research the disorder, and that means investing in 21st-century, human biology-based models and tools.”

In the study, published in the journal Biological Psychiatry, the researchers focus on how recent developments in genetic sequencing and advanced human brain cell cultures could improve the study of Autism Spectrum Disorders (ASD).

“Now, though, thanks to recent scientific advances, we can study the condition in the right species – humans – and the hope of personalised medicines developed for the specific form of ASD affecting each patient becomes a very real possibility. That would take autism research to the next level, and quite possibly advance the pace of medical progress way beyond anything we’ve seen in the last four decades,” added Professor Muotri.

The scientists believe that the progress in understanding and treating ASDs is being delayed due to unreliable animal models. Despite more than 40 years of research dominated recently by artificially created symptoms in genetically modified mice and other animals, no effective treatments and no cure have been discovered.

“With animal research we’re studying an already highly genetically variable disease through the obscured lens of a mouse’s biological, neurological and genetic make-up, with all the species-specific differences that entails in terms of disease physiology and response to drugs. So while we can re-create in mice a few symptoms reminiscent of autism, as a model of the human disease it’s unsatisfactory,” said Professor Muotri.

Now, Professor Muotri is leading a research, called the Tooth Fairy Project, in which stem cells are extracted from baby teeth donated by families of autistic children. These cells are then reprogrammed into fully functioning brain cells and show specific abnormalities relevant to each child.

Professor Muotri and his team hope this could potentially lead to targeted treatments tailored to the specific autistic pathology of each patient. More than 3,500 ASD families take part in the project and genetic sequencing methods has already identified five novel human genes that are associated with autism.

Paper abstract: http://www.biologicalpsychiatryjournal.com/article/S0006-3223(15)00226-7/abstract