Cause of rare genetic condition discovered

Posted on April 19, 2024 by debre80p

Genetics Otago member Amy Jones (PhD student in the Robertson group) is the lead author of a recently published paper in The American Journal of Human Genetics. The research on Glutamine Synthetase Stabilization Disorder involved an international team of researchers and provides “an excellent example of finely tuned precision medicine”.

Read more via the Otago Newsroom.

Publication details:

Clustered de novo Start-Loss Variants in GLUL Result in a Developmental and Epileptic Encephalopathy via Stabilization of Glutamine Synthetase

Amy G Jones, Matilde Aquilino, Rory J Tinker, Laura Duncan, Zandra Jenkins, Gemma L Carvill, Stephanie J DeWard, Dorothy K Grange, MJ Hajianpour, Benjamin J Halliday, Muriel Holder-Espinasse, Judit Horvath, Silvia Maitz, Vincenzo Nigro, Manuela Morleo, Victoria Paul, Careni Spencer, Alina I Esterhuizen, Tilman Polster, Alice Spano, Inés Gómez-Lozano, Abhishek Kumar, Gemma Poke, John A Phillips III, Hunter R Underhill, Gregory Gimenez, Takashi Namba, and Stephen P Robertson.

American Journal of Human Genetics

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