Sally A. Camper, Ph.D.
James V. Neel Professor and Chair
Department of Human Genetics
Professor, Department of Internal Medicine
Genetics of Birth Defects: neuroendocrine, auditory, and skeletal development. We use two main approaches in our birth defects research - sequencing patient DNA to identify novel disease genes and use of cell culture and animal models, especially the mouse, to understand the mechanism and pathophysiology of disease. Genetically engineered mice that model human disease are also valuable for testing therapeutic interventions. We are particularly interested in the genetic control of differentiation and cell proliferation that pertains to stem cells, progenitors and specialized cells. We study transcriptional regulation, cell signaling, and the interaction of these.
Mortensen AH, Schade V, Lamonerie T, Camper SA. Deletion of OTX2 in neural ectoderm delays anterior pituitary development. Hum Mol Genet. 2014 Oct 14. [Epub ahead of print]
Davis SW, Ellsworth BS, Peréz Millan MI, Gergics P, Schade V, Foyouzi N, Brinkmeier ML, Mortensen AH, Camper SA. Pituitary gland development and disease: from stem cell to hormone production. Curr Top Dev Biol. 2013;106:1-47. PMC4039019.
Pérez-Millán MI, Zeidler MG, Saunders TL, Camper SA, Davis SW. Efficient, specific, developmentally appropriate cre-mediated recombination in anterior pituitary gonadotropes and thyrotropes. Genesis. 2013 Nov;51(11):785-92. PMC4007265.
Geister KA, Brinkmeier ML, Hsieh M, Faust SM, Karolyi IJ, Perosky JE, Kozloff KM, Conti M, Camper SA. A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type. Hum Mol Genet. 2013 Jan 15;22(2):345-57.
Fang Q, Giordimaina AM, Dolan DF, Camper SA, Mustapha M. Genetic background of Prop1(df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment. J Assoc Res Otolaryngol. 2012 Apr;13(2):173-84. PMC3298611.