Studies

Summary

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.

Hints for Parents

MusicEd

Use music to help your child memorize important academic concepts! There are many music lessons available online.

Studies Articles

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, September 25, 2014 - 13:02

Connections Lead to Research

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.

tags: Genetics, Studies
Last Updated: Monday, September 22, 2014 - 19:51

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

Genetic Research in Italy

There are numerous Kabuki studies, worldwide, that need your donations!  The Merla group, based in Italy, is one such project.

tags: Genetics, Studies
Last Updated: Thursday, April 17, 2014 - 07:40

Kabuki Syndrome Genetic Research

Participate in ground-breaking research to continue in the search for the genetic causes of Kabuki!

tags: Studies
Last Updated: Monday, May 16, 2011 - 12:31

Kabuki Syndrome Network 2001 Survey Results - The Frequency of Birth Defects, Neurobehavioral and Social Challenges

A synopsis of the 2001 KSN-generated questionnaire sent to families to determine the frequency of a wide number of characteristics.

tags: Studies
Last Updated: Thursday, April 28, 2011 - 08:37