Sally A. Camper, Ph.D.
Margery W. Shaw Distinguished University ProfessorProfessor of Human GeneticsProfessor of Internal Medicine
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Genetics of Birth Defects: neuroendocrine, craniofacial, and neurosensory developmental defects, structural birth defects, abnormalities in growth. Pituitary hormone deficiency diseases and adenomas are both common in humans. Congenital pituitary hormone deficiency is genetically heterogeneous. Over 30 genes have been implicated in this disorder, but most cases still have no molecular diagnosis. Many of the responsible genes encode transcription factors or molecules involved in cell signaling pathways. We have an international collaboration working to identify novel causes of congenital hypopituitarism and growth disorders with syndromic features including craniofacial abnormalities and/or vision, hearing, and olfactory deficits. We use mice, zebrafish, yeast and cell culture to model the human disorders and understand the pathophysiology of diseases. We also study epigenetic regulation of gene expression and its role in intellectual development and autism spectrum disorders.
Genetics of Birth Defects: neuroendocrine, craniofacial, and neurosensory developmental defects, structural birth defects, abnormalities in growth. Pituitary hormone deficiency diseases and adenomas are both common in humans. Congenital pituitary hormone deficiency is genetically heterogeneous. Over 30 genes have been implicated in this disorder, but most cases still have no molecular diagnosis. Many of the responsible genes encode transcription factors or molecules involved in cell signaling pathways. We have an international collaboration working to identify novel causes of congenital hypopituitarism and growth disorders with syndromic features including craniofacial abnormalities and/or vision, hearing, and olfactory deficits. We use mice, zebrafish, yeast and cell culture to model the human disorders and understand the pathophysiology of diseases. We also study epigenetic regulation of gene expression and its role in intellectual development and autism spectrum disorders.
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