Research

The advancement of research is an important part of diagnosing and understanding Kabuki syndrome. Alhough KSN has worked in concert with past studies, we have not yet actively raised funds in support of research projects. We would like to encourage anyone who is interested in setting up a research foundation to contact KSN.

Hints for Parents

Social Stories

Social stories help our children better predict the actions and assumptions of others. There are many websites that demonstrate how to make your own!

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

Mendelian Disorders of the Epigenetic Machinery

 

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

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

Rare Diseases - Diagnosis, Therapies, and Hope

This is a free e-book authored by Ana Sanfilippo and Jimmy Lin, MD, PhD, MHS.  Jimmy Lin is the president of Rare Genomics Institute, a  nonprofit that uses crowdfunding to help find cures for children with rare diseases.  The book includes:

tags: Genetics
Last updated: Monday, April 28, 2014 - 06:47

Epigenetics and How it Relates to Kabuki Syndrome

Whenever we read about the MLL2 (KMT2D) and the KDM6A genesi, the 2 presently known causative genes of Kabuki, the term ‘epigenetics’ is thrown around.  What does it all mean?

tags: Genetics
Last updated: Wednesday, October 1, 2014 - 20:20

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

isomerism

tags: Genetics
Last updated: Saturday, April 12, 2014 - 21:26

KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation

KMT2D

tags: Genetics
Last updated: Saturday, April 12, 2014 - 18:52