As many of you know, Dr. Bjornsson and colleagues have discovered a deficiency of neurogenesisi in the hippocampusi. They have shown in a mouse model of Kabuki syndrome that they were able to increase the number of hippocampal neurons with a drug treatment (AR-42). They obtained similar results in mice when given a ketogenic diet, as well as when fed a regular diet with ketone ester injections.
As an aside: most neurogenesis occurs while a baby is developing in the womb and is responsible for the development of the brain's neurons. However, the hippocampus is one of the parts of the brain which continues to develop new neurons during adulthood. The level of adult neurogenesis in the adult hippocampus has been linked directly to cognition and mood.
If you would like to donate or organize a fundraiser to further this initiative, please read on! Following is an update from Johns Hopkins:
Hello from Johns Hopkins! It’s hard to believe that a little over a year ago we were hosting the Kabuki Conference here in Baltimore. Over the last year we have had some exciting forward progress that Dr. Bjornsson and his team would like to share with the community.
Dr. Bjornsson received an extremely generous gift at the beginning of 2016 that allows him to begin work to answer the following questions regarding the Ketogenic Diet:
Understand mechanism of therapeutic action of ketogenic diet (how does it work?)
Explore whether ketogenic diet gives sustained rescue of the neurogenesis defect (does it continue to work over time)
Can we achieve the same rescue with an oral ketone product even on a regular diet
Additionally, Peter and Annie Dean Zaitzeff (parents of a child with Kabuki) will be spearheading a $2 million fundraising effort to move Dr. Bjornsson’s work towards clinic trial by working towards the following:
Demonstrate sustained rescue of the neurogenesis defect in Kabuki syndrome mice
Identify additional outcome measures for any future clinical trial
Identify the progenitor cells in the hippocampus that display defective proliferation in Kabuki syndrome
Identify target genes that could lead to additional, more refined therapeutic strategies
To make a gift to support the $2 million effort spearheaded by the Zaitzeff family please click here.
If you have any questions regarding fundraising for Dr. Bjornsson’s Kabuki Syndrome research, contact: Renee von Gonten at 443-287- 8231 or firstname.lastname@example.org