NIH R01 · 2025
Elucidating epigenetic mechanisms of disease and treatment in Weaver and Sotos syndromes
Project Summary/Abstract Growth and neurodevelopment are fundamental to child health and have an epigenetic basis that remains poorly understood, posing a barrier to therapeutic development. Mendelian disorders of the epigenetic machin- ery (MDEMs) are monogenic syndromes characterized molecularly by altered epigenomes and phenotypically by disrupted growth and neurodevelopment. They can thus inform the epigenetic basis of growth and neurode- velopment. Weaver and Sotos syndromes are MDEMs caused by disruption of distinct histone writers that ex- hibit highly similar phenotypes of pathological overgrowth and intellectual disability (ID). The current proposal uses these disorders to…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.