Yale Researchers Identify Potential Treatment for Rare 'Smooth Brain' Disorders

A study reveals the underactive mTOR pathway as a key factor in lissencephaly and demonstrates a drug's ability to reverse brain malformations in lab models.

• Lissencephaly is a group of rare genetic disorders characterized by a lack of brain folds, leading to seizures and intellectual disabilities.
• Yale scientists linked the disorder to an underperforming mTOR pathway, which regulates cellular metabolism and brain development.
• Using patient-derived brain organoids, researchers demonstrated that activating the mTOR pathway can prevent and reverse cortical thickening associated with lissencephaly.
• The study suggests that targeting the mTOR pathway could provide a universal treatment across the spectrum of lissencephaly disorders, regardless of genetic cause.
• Future research will explore mTOR's role in other lissencephaly types and investigate clinical applications for mTOR-activating therapies.

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