Genetic and functional analysis of the pathogenesis of ACTH-insensitivity in a patient cohort with late onset disease

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Familial Glucocorticoid Deficiency (FGD) is a rare inherited disorder which leads to adrenal failure and hormone deficiency. Our studies have revealed several genes responsible for this disorder which has led to significant advances in the understanding of normal adrenal function. The abnormal genes responsible for approximately 50% of FGD cases have been discovered.Our proposed research project will attempt to identify new gene(s) involved in this disorder using DNA samples from children and adults with a unique form of late onset FGD.We hope to clarify the function of the FGD gene and the mechanism by which it causes adrenal failure. It is hoped that this research will not only lead to a better understanding of this rare condition but also potentially uncover novel pathways that are essential for normal adrenal function.