Genetics

Summary

We are living in an era of extremely fast developing advancements in the field of genetics. With the completion of full genomei mapping, there has been a race to improve our understanding of human genetics.

Hints for Parents

Obsess to Success

Many children with Kabuki fixate on something they enjoy. Incorporating their fixation into their school work can facilitate learning.

Genetics Articles

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: Thursday, September 3, 2015 - 13:43

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

 

Dr. Hans Bjornsson and colleagues have demonstrated that after treatment with the histone deacetylase inhibitor AR-42 (an anti-cancer drug) the mice models showed a decrease in deficits indicative of hippocampal memory dysfunction. More research is needed, but the results suggest a future possiblity for treatment of certain aspects of intellectual disability in Kabuki.

tags: Genetics
Last Updated: Wednesday, August 26, 2015 - 12:47

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 - 06:46

Mendelian Disorders of the Epigenetic Machinery

 

tags: Genetics
Last Updated: Monday, September 22, 2014 - 20:51

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 - 20:51

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 - 07:47

Epigenetics and How it Relates to Kabuki Syndrome

Whenever we read about the KMT2D (MLL2) 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: Sunday, August 30, 2015 - 19:11

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

isomerism

tags: Genetics
Last Updated: Saturday, April 12, 2014 - 22:26

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

KMT2D

tags: Genetics
Last Updated: Saturday, April 12, 2014 - 19:52

A Novel MLL2 Gene Mutation in a Korean Patient with Kabuki Syndrome

Korean

tags: Genetics
Last Updated: Monday, September 22, 2014 - 20:54