In the summer of 2006, the Japanese scientist Dr Shinya Yamanaka introduced a new method for reprogramming adult cells back into an embryonic-like state. It revolutionised the world of stem cell biology.
The groundbreaking discovery of these so-called induced pluripotent stem cells (iPSCs) won Yamanaka a Nobel Peace Prize six years later.
But his breakthrough would also prove transformative for a very different medical field: autism. Specifically, the quest to understand the biology behind it.
Back in the mid 2000s, genetic sequencing experiments were just beginning to reveal how tiny differences in the human genetic code could affect brain development.
We now know that the majority of cases of autism arise through the combined effect of hundreds or thousands of common gene variants, inherited from both parents.
But in around 20 per cent of cases, they’re driven by rare gene mutations that have an outsized impact and, to date, at least 100 of these mutations are known to exist.
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