Genetics Summary

IngramWe are living in an era of extremely fast developing advancements in the field of genetics. With the completion of full genomei mapping, there has been a race to improve our understanding of human genetics. Microarray technology is now rapidly revealing patterns of genetic activity in the cells which is helping researchers understand the genetic cause of diseases and syndromes with previously undiagnosable origin. Kabuki is one of those syndromes. With the discovery of the KMT2D (MLL2) and KDM6A alterations in a percentage of individuals with Kabuki, we are steps closer in our understanding of Kabuki’s basis. But we are not yet fully there. There is still much more research that needs to be done. We invite professionals to keep KSN informed and families to ask questions!

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