Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • NEWS AND VIEWS

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.

    View author publications

    You can also search for this author in PubMed  Google Scholar

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.

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Learn more

Prices may be subject to local taxes which are calculated during checkout

Nature 628, 730-732 (2024)

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

References

  1. Chen, X. et al. Nature 628, 818–825 (2024).

    Article  Google Scholar 

  2. Splawski, I. et al. Cell 119, 19–31 (2004).

    Article  PubMed  Google Scholar 

  3. Tang, Z. Z. et al. J. Biol. Chem. 286, 10007–10016 (2011).

    Article  PubMed  Google Scholar 

  4. Birey, F. et al. Cell Stem Cell 29, 248–264 (2022).

    Article  PubMed  Google Scholar 

  5. Revah, O. et al. Nature 610, 319–326 (2022).

    Article  PubMed  Google Scholar 

  6. McCauley, M. E. & Bennett, C. F. Neuron 111, 2465–2468 (2023).

    Article  PubMed  Google Scholar 

  7. Gandal, M. J. et al. Science 362, eaat8127 (2018).

    Article  PubMed  Google Scholar 

  8. Panagiotakos, G. et al. eLife 8, e51037 (2019).

    Article  PubMed  Google Scholar 

  9. Dowden, H. & Munro, J. Nature Rev. Drug Discov. 18, 495–496 (2019).

    Article  PubMed  Google Scholar 

  10. Adashi, E. Y., O’Mahony, D. P. & Cohen, I. G. Am. J. Med. 136, 853–854 (2023).

    Article  PubMed  Google Scholar 

  11. Dulla, K. et al. Mol. Ther. Nucleic Acids 12, 730–740 (2018).

    Article  PubMed  Google Scholar 

  12. Russell, S. R. et al. Nature Med. 28, 1014–1021 (2022).

    Article  PubMed  Google Scholar 

Download references

Competing Interests

The author declares no competing interests.

Subjects

Latest on:

Nature Careers

Jobs

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing

Search

Advanced search

Quick links