From target discovery to clinical drug development with human genetics | Nature
May 18, 2025https://www.nature.com/articles/s41586-023-06388-8
Trajanoska, K., Bhérer, C., Taliun, D., Zhou, S., Richards, J. B., & Mooser, V. (2023). From target discovery to clinical drug development with human genetics. Nature, 620(7975), 737–745.
https://doi.org/10.1038/s41586-023-06388-8
Human genetics evidence supports two-thirds of the 2021 FDA-approved drugs
May 17, 2025https://www.nature.com/articles/d41573-022-00120-3
Ochoa, D., Karim, M., Ghoussaini, M., Hulcoop, D. G., McDonagh, E. M., & Dunham, I. (2022). Human genetics evidence supports two-thirds of the 2021 FDA-approved drugs. Nature Reviews Drug Discovery, 21(8), 551. https://doi.org/10.1038/d41573-022-00120-3
Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities | Nature Reviews Neurology
May 17, 2025https://www.nature.com/articles/s41582-020-0389-4
Tabrizi, S. J., Flower, M. D., Ross, C. A., & Wild, E. J. (2020). Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities. Nature Reviews Neurology, 16(10), 529–546. https://doi.org/10.1038/s41582-020-0389-4
Genetic Clues Could Inform Precision Medicine for Schizophrenia and Autism
May 17, 2025QT:{{”
While rare, mutations that remove or delete sections of DNA in neurexin-1, called deletion mutations, are highly associated with schizophrenia and autism. But these mutations are not straightforward. Almost all affected patients have deletions in different parts of the gene, and because neurexin-1 can code for hundreds of different proteins, deletions in different regions of the gene will affect different proteins.
“This idea of stratifying not just based on symptoms but on genetics and the type of mutations is really the big take-home for informing future precision medicine,” Brennand says.
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