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Targeting RNA opens therapeutic avenues for Timothy syndrome

A therapeutic strategy that alters gene expression in a rare and severe neurodevelopmental condition has been tested in stem-cell-based models of the disease, and has been shown to correct genetic and cellular defects.
  1. Silvia Velasco

    1. Silvia Velasco is in the Stem Cell Biology Department at the Murdoch Children’s Research Institute and at the Novo Nordisk Foundation Center for Stem Cell Medicine, reNEW Melbourne, Parkville, Victoria 3052, Australia.

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Scientists understand more about the genetic causes of human diseases than ever before, but there are still many neurological conditions that do not have effective therapies. One barrier is the lack of adequate model systems that can be used to understand disease mechanisms and test therapeutics. In vitro models of the human brain hold a great potential to overcome this. Using stem cells, it is now possible to generate complex 3D neural tissues. These structures, known as brain organoids, can be made from a type of cell called induced pluripotent stem cells, which are reprogrammed from an individual’s blood or skin cells and have the potential to become any cell type in the body. Writing in Nature, Chen et al.1 describe their use of brain organoids made from patient-derived stem cells to identify a potential therapeutic strategy for the treatment of a severe developmental condition called Timothy syndrome.

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Nature 628, 730-732 (2024)

doi: https://doi.org/10.1038/d41586-024-00911-1

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Competing Interests

The author declares no competing interests.

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