Genetics

[DickD]

And this one…

Inoperable AVM improving with Mekinist treatment

Hi all It has been a while since I posted but wanted to share the process with our sons avm treatment. Our son also has an inoperable and extensive avm in his back which also affects the spinal cord. 3years back, we had a while exome sequencing done of a biopsy from the area. It showed a mutation in mitogen activated protein kinase kinase 1 (MAP2K1), the gene that encodes MAP-extracellular signal-regulated kinase 1 (MEK1). He is now on a MEK inhibitor drug called mekinist, just 1mg a day, and …