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

Genetic Research in Italy

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

Author(s):

tags: Genetics, Studies

Last Updated: Wednesday, May 15, 2013 - 08:09

Kabuki syndrome: A deficient highlighter in the book of life.

The human body has many different cells yet they all share identical information content. The human genome (the book of life), which is the encyclopedia of all the machinery in all the cells has about 20000 genes (words). How does a cell decide which genes (words) to use at a specific time? One way is through the use of epigenetics. Epigenetic modifications sit close to the genes (words) they affect and thereby essentially highlight (or strikethrough) the genes (words) that should be used by that cell type at that time.

Author(s):

Hans Bjornsson

tags: Genetics, Studies

Last Updated: Thursday, March 21, 2013 - 11:38