Sequencing IDs Causative, Druggable Genes in Infantile Myofibromatosis | GenomeWeb

An exome sequencing study evaluating nine different families affected by autosomal-dominant infantile myofibromatosis has identified two candidate disease-causing genes that may be amenable to treatment with approved drugs.

John Martignetti, associate professor of genetics and genomic sciences at Mount Sinai Hospital, said that the next steps are to do functional studies on cell lines to understand the mutations' impact as well as how the indicated drugs affect the cells.

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