NIH-funded study shed light on abnormal neural function in rare genetic disorder

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On Sept. 28, 2020, a genetic study identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome. The overexpression of a specific gene and exposure to several antipsychotic drugs helped restore normal cellular functioning.

The study, funded by the NIH and published in Nature Medicine, shed light on factors that may contribute to the development of mental illnesses in 22q11.2 deletion syndrome and may help identify possible targets for treatment development.

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Source: National Institutes of Health
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