Current projects include:

1) Human genetics variants in the SLC16A2(MCT8) gene cause Allan-Herndon-Dudley syndrome characterized by neurodevelopmental delay and inability to walk, lift the head, or talk. SLC16A2 is a thyroid hormone transporter that is important for neurodevelopment. It is also expressed in the embryonic pituitary gland and in postnatal pituitary stem cells. Some AHDS patients also have growth issues. We are studying the role of SLC16A2 in the pituitary gland and whether different genetic variants in AHDS patients lead to phenotypic variability. We will use a combination of knockout mouse models and CRISPR/Cas9 edited human embryonic stem cells to functionally test the role of thyroid hormone transport into pituitary stem cells.

2) Single-cell RNAseq data indicate that the folate receptor FOLR1, as well as SLC16A2, is expressed in SOX2-positive pituitary stem cells. This leads us to investigate the role of folic acid as a potential regulator of pituitary stem cell proliferation and/or differentiation. Using a combination of pituitary stem cell colony assays together with pituitary-specific conditional Folr1 knockout mice, we will study the effects of folate depletion and oversupplementation in pituitary stem cell function.

Other research interests include:

· Genetics of pediatric hormone deficiencies

· Mechanisms of thyrotrope cell specification

· Developmental genetics of pituitary organogenesis

· Mechanisms of human pituitary tumorigenesis