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Dec 12, 2022

Genetically modified mice pave the way for customized medicine in a rare disease

Posted by in categories: bioengineering, biotech/medical, genetics

An international research team led by Dr. Ana Guadaño at the Alberto Sols Biomedical Research Institute (IIBM, a combined CSIC-UAM center) and involving the Complutense University of Madrid (UCM), used CRISPR gene editing techniques to incorporate into mice a mutation of the MCT8 protein responsible for transporting thyroid hormones to the interior of the cell.

Patients with mutations in this protein suffer from Allan-Herndon-Dudley syndrome, a that takes the form of serious neurological alterations, in which each patient may reveal a different mutation of MCT8.

This study, published in Neurobiology of Disease, describes the first avatar model for the disease—in other words, the first animal model with the same as various .

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