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.

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Studies Articles

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 epigenetic consequences. These disorders often affect proteins known as histones, which associate with DNA and can affect whether genes 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 - 09:30

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 - 08:40

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 - 13:31

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 - 09:37