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:

  • Johns Hopkins University, Baltimore, Maryland
  • Torrance, California
  • Warwickshire, United Kingdom

HannibalWeissmanParticipation via videoconference allowed those unable to attend the Johns Hopkins conference to take advantage of the valuable presentations of the experts.View two of these presentations: Dr. Mark Hannibal “Immunologic Issues of Kabuki Syndrome” followed by Dr. Jacqui Weissman “Development and Learning in Kabuki Syndrome” by clicking on this link. (Click on KabukiSyndrome.avi to watch online.  If you’d like to forward to Dr. Weissman’s presentation, forward to 39:27 on time line. You will have better success of viewing video if using a desktop or laptop.)

BjornssonDr. Hans Bjornsson presented exciting research results being obtained in his lab at Johns Hopkins. In the last 2 years they have been able to discover several novel markers of the neuronal dysfunction in Kabuki syndrome, including a deficiency of neurogenesisi in the hippocampusi. KMT2D protein is highly expressed in the granule cell layer of the dentate gyrus, which is a part of the hippocampus. Adult neurogenesis occurs in this part of the brain and it has been shown that defects of adult neurogenesis lead to hippocampal memory defects.

FahrnerDr. Bjornsson, Dr. Jill Fahrner, and colleagues have been able to show that in a mouse model of Kabuki syndrome they can increase the numbers of hippocampal neurons with drug treatment (AR-42) or a dietary intervention, with concurrent improvement of memory defects. Their work and its potential for improving intellectual functioning was highlighted in a recent publication in Science Translational Medicine. As a consequence of these promising preliminary results, they have been contacted by a number of companies interested in transferring their work to industry. However, it is clear that they require additional data before transitioning to the clinic, including: (1) identification of the specific cell type that is defective in the hippocampus; (2) proof that they can achieve long-term rescue of neurogenesis defect; (3) additional outcome measures that can be utilized in clinical trials; (4) identification of specific target genes that could be used to inform a more tailored therapy based on a downstream target genes modified by the Kabuki syndrome gene (KMT2D/MLL2); and, preliminary data in patients. 

Kabuki Syndrome Network is very interested in finding avenues to further the work of Dr. Bjornsson.


Bjornsson slides


Dr. Bjornsson's slides


Weissman slides


Dr. Jacqui Weissman's slides

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