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Around the world there are various research projects which are looking at Kabuki Syndrome. When we hear of them we are adding them to this list. If you know of anything please contact us and we will look into it and add it here.


Q&A with Dr Hans Bjornsson

With epigenetics being known to play a major role in some diseases, we're now seeing the emergence of specialist centers dedicated to clinical epigenetics research. In this Q&A, Dr Hans T Bjornsson gives an insight into the exciting work going on at his Johns Hopkins patient clinic. Read the full article on BioMed Central here

Possible evidence that a Ketogenic diet may help people with Kabuki

Studying mice with a genetic change similar to what is found in Kabuki syndrome, an inherited disease of humans, Johns Hopkins researcher Hans Bjornsson, M.D., Ph.D.,reports that his team has used a low-carbohydrate diet and a naturally occurring molecule with the same physical effect to “open up” DNA and improve mental function. Read the full article here

Potential Breakthrough

From "Doctors have traditionally viewed intellectual disorders as unchangeable, and the parents of children who suffer from these conditions have come to accept that regardless of education and treatment options, their child’s performance level will never be on par with other kids their age. A new study could potentially change this current reality after they showed that intellectual disorder does not have to be lifelong, and may even be reversible." Read more here 

Genetic Discovery

"Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes." Find out more here

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