NIH R01 · 2025
PROJECT ABSTRACT Pleiotropy is defined as the phenomenon in which one gene affects multiple distinct phenotypic features. Although unbiased genomic analyses have unmasked its increasing prevalence in Mendelian and complex traits, the full extent of pleiotropy and its molecular basis in humans remains elusive. In this proposal, we will leverage two seemingly distinct developmental genetic conditions, Idiopathic Hypogonadotropic Hypogonadism (IHH) and Craniosynostosis (CS), as hallmark examples to study pleiotropy. IHH is a rare reproductive disorder caused by defective embryonic migration and/or secretion of hypothalamic Gonadotropin-releasing hormone (GnRH) neurons. CS is a birth defect…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.