New Research Featuring Phoenix Children’s Physicians Published in Science Advances
A groundbreaking study published in Science Advances and featuring Phoenix Children’s investigators Dr. Michael Kruer and Dr. Patricia Cornejo reveals a previously unknown requirement for somatic genetic diversity among neurons in normal brain development.
This study is the first to demonstrate that genetic diversity among individual brain cells is required for normal neurodevelopment. The research identifies the gene PGBD5 as a critical driver of controlled DNA remodeling during early brain development, a process essential for normal neuronal gene expression, cortical organization, and neurological function. Disruption of this mechanism results in severe neurodevelopmental disorders, including intellectual disability, movement disorders, and epilepsy.
This work establishes somatic genome remodeling as a programmed and necessary biological process in mammalian neurodevelopment, reframing how genetic mosaicism is understood in the nervous system. Published in a journal with a <10% acceptance rate and a top tier impact factor (>12), the study positions Phoenix Children’s at the forefront of transformative neurogenetics research.
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