Our project will be conducted by teams from @ugent-fge.bsky.social and @uzgent.be @elfridedebaere.bsky.social Burcu Cicekdal @krisvleminckx.bsky.social Thomas Naert & Institut Imagine Jean-Michel ROZET Lucas Fares-Taie

#3Dgenome
#enhanceropathy
#Xenopus
#SOX21
#glaucoma

Kabuki Syndrome is an "enhanceropathy" - what does that mean?

This amazing study explains that, and puts Kabuki in a context of several other diseases that affect the mysterious and mind-blowing areas of the genome called enhancers. Enjoy! #kabukisyndrome

thekabukipapers.org/translations...

This identified amongst others a novel enhanceropathy, caused by a rare single nucleotide variant in the enhancer of the gene RAB7A, causing a novel type of Charcot-Marie-Tooth disease. We show in cells and zebrafish models how this variant affects RAB7A expression.