At any given time, there are numerous studies underway in countries all over the world to help further define what it means to have Kabuki. Some of these may be to find the genetic cause, others to report previously unknown characteristics, and yet others may be to evaluate and better understand a particular previously recognized characteristic.

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Studies Articles

We'd Like to Raise $2 Million!

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.

tags: Studies
Last Updated: Friday, July 22, 2016 - 19:29

International Registry of Individuals with Kabuki




tags: Studies
Last Updated: Wednesday, March 9, 2016 - 17:20

KDM6A Study

Has your child been diagnosed with the KDM6A mutation?  

tags: Studies
Last Updated: Thursday, November 5, 2015 - 19:14

Research is the New Future

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

tags: Genetics, Studies
Last Updated: Wednesday, August 30, 2017 - 07:54

Drug treats inherited form of intellectual disability in mice

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.

tags: Genetics, Studies
Last Updated: Friday, October 3, 2014 - 05:46

FaceBase - 3D Imaging

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.

tags: Studies
Last Updated: Friday, September 26, 2014 - 20:33

Research Project on Cognitive Profiles in Kabuki Syndrome - Johns Hopkins/Kennedy Krieger Institute

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.

tags: Studies
Last Updated: Friday, September 26, 2014 - 08:51

Be Part of the Solution - John Hopkins Needs YOU!!

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

tags: Studies
Last Updated: Thursday, February 19, 2015 - 19:39

Connections Lead to Research


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.

tags: Genetics, Studies
Last Updated: Wednesday, August 30, 2017 - 07:58

Exploring Kabuki Syndrome as a Treatable Cause of Intellectual Disability

One of Johns Hopkins’ NIH award recipient, Bjornsson, is based in the school of medicine’s McKusick-Nathans Institute of Genetic Medicine. His research group studies genetic disorders with epigenetici consequences. These disorders often affect proteins known as histones, which associate with DNAi and can affect whether genesi are turned “off” or “on.” The group’s particular focus is on Kabuki syndrome, which causes intellectual disability, immunological problems and distinctive facial features. Bjornsson is looking for ways to treat the disease by correcting a problem with chemical groups added to the histone tails.

tags: Genetics, Studies
Last Updated: Sunday, May 25, 2014 - 08:30