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The numbers of genes mutant or variant in most human disease is very large, probably in the 100’s or even 1000’s. Understanding their roles in disease is important for elucidating disease mechanisms but we have been poor at doing so, despite having large catalogs of disease genes. Understanding their roles in a given cell (type) requires deciphering their functional organization in ‘gene regulatory networks’ (GRN) that connect the functions of one gene to many and integrates signals from the membrane, arising from chemical cues from other cells (non cell autonomous), to the nucleus to alter that cell’s behavior. I shall discuss the nature of the understanding we seek to explain the causes of disease using a model complex disorder called Hirschsprung disease (congenital aganglionosis).
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