Research

Hello from Johns Hopkins! It’s hard to believe that a little over a year ago we were hosting the Kabuki Conference here in Baltimore. Over the last year we have had some exciting forward progress that Dr. Bjornsson and his team would like to share with the community.

Has your child been diagnosed with the KDM6A mutation?  

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.

Researchers from the University of California, San Francisco, University of Colorado, and University of Calgary are working together to build a database of 3D facial images that will enable faster and more accurate diagnosis of different genetic syndromes. The goal is to revolutionize the practice of clinical genetics by creating a diagnostic tool that will include a variety of genetic craniofacial syndromes, including Kabuki Syndrome. The project is called FaceBase, and is part of a larger international effort to better understand how the face and cranium form during development.

As we continue to learn more about the genetics of Kabuki Syndrome (KS), it is crucial to learn about the specific deficits that children with KS struggle with every day. This will not only help us better understand the children and families we, as providers, all work with, but also to potentially provide therapeutic options in a number of different ways.

John Hopkins currently has 2 studies for which they are seeking participants: