Research

The overarching goal of our research is to understand the causes of birth defects, including the genes involved and the mechanisms of pathological manifestations, to develop molecular diagnostics, and explore treatment efficacy. Our research is focused on understanding the genetic control of hypothalamus and pituitary gland development and function and how mutations cause growth insufficiency, hypothyroidism, delayed puberty, infertility, metabolic abnormalities, and abnormal stress response. The pituitary gland and hypothalamus are located in the midline of the developing fetus, and birth defects affecting these organs can present with syndromic features affecting the face, brain, vision, hearing, and sense smell, as well as structural defects in other organ systems. Congenital hypopituitarism is a common, genetically heterogeneous disorder, that is part of a spectrum spanning from holoprosencephaly and septo-optic dysplasia to isolated growth hormone deficiency and hypogonadotropic hypogonadism.