Genetics

Every year Kabuki gatherings/conferences occur around the globe.  Australia, France, Netherlands, United Kingdom, and numerous locations in the US, just to name a few. As conferences have grown, so too has interest from the scientific world. Our focus now needs to include accelerating research through identification of funding opportunities and building awareness among the research community.

On June 27^th, 2015 Kabuki conferences were held in 3 locations on the same day:

Dr. Hans Bjornsson and colleagues have demonstrated that after treatment with the histone deacetylase inhibitor AR-42 (an anti-cancer drug) the mice models showed a decrease in deficits indicative of hippocampal memory dysfunction. More research is needed, but the results suggest a future possiblity for treatment of certain aspects of intellectual disability in Kabuki.

Study suggests some symptoms in human version of the disorder could be eased.

Studying mice with a genetic change similar to what is found in Kabuki syndrome, an inherited condition of humans, Johns Hopkins researchers report they have used an anticancer drug to "open up" DNAⁱ and improve mental function.

SOUTHERN CALIFORNIA GATHERING A SUCCESS!

While Dr. Bjornsson gave a presentation and participated in the Q&A, Dr. Weissman met with individuals and their parents to gather baseline cognitive and behavioral research.

Whenever we read about the KMT2D (MLL2) and the KDM6A genesⁱ, the 2 presently known causative genes of Kabuki, the term ‘epigenetics’ is thrown around.  What does it all mean?

Online articles will refer to both the KMT2D and MLL2 geneⁱ as being the causative agent in 70 - 75% of individuals with Kabuki syndrome.  This can be confusing.  In many cases, more than one name have been assigned to a specific gene, dependent on naming systems and nomenclature committees.  In this case, the two are used interchangeably.  The KMT2D gene should not be confused with the KDM6A gene, which is the second causative gene of Kabuki syndrome.