Kathryn L. Maschhoff, MD, PhD

I am a neonatologist interested in cardiac development, particularly in the development of the conotruncal region of the heart. Neural crest cells, which migrate to the developing heart from the neural tube, are essential for normal conotruncal development. Disruption of the normal migration or function of these cells in animal models recapitulates many of the features of DiGeorge syndrome seen in humans, including conotruncal cardiac defects such as persistent truncus arteriosus and interrupted aortic arch.

One focus of my research program is to understand how neural crest cells interact with other cells in the developing outflow tract during conotruncal development. A second focus of my research program is to elucidate the role of members of the Sox family of transcription factors, particularly Sox4 and the closely related transcription factor Sox11, in cardiac development. I have recently cloned the Sox4 gene and am using a variety of techniques, including in situ hybridization and expression of sense, antisense and dominant negative Sox gene transcripts by adeno- and retroviruses to study the function of Sox4 and Sox11 during cardiac development.