Be Part of the Solution - John Hopkins Needs YOU!!

John Hopkins currently has 2 studies for which they are seeking participants:

  1. Genei Discovery Study – is looking for another gene responsible for Kabuki.  If your child has been tested, and is negative for both the MLL2 and KDM6A gene, they would love to recruit you!  Please contact Dr. Hans Bjornsson.
  2. Neuropsychological Study – to establish a baseline to be used as a comparison for future studies.  Dr. Jacqui Weissman (Neuropsychology) is running a panel of neuropsychological tests (started at the Kabuki gathering in California this past summer) for children between ages 7-18.  She is also collecting clinical information about individuals with KS who want to be involved in their research but are unable to make the trip to Baltimore.  Please contact Dr. Jacqui Weissman.  For further information on the Neuropsychological Study click here.

Note: Drs. Bjornsson and Fahrner’s study has demonstrated in mice (postnatally) that targeting the epigenetic machinery that controls the correct balance of genetic expression, can lead to increased memory abilities.  A number of US Food and Drug Administration-approved agents are presently known to have this inhibitory effect.  It is their hope that correcting the chromatini state imbalance will have positive neurological effects.  It is therefore important to have a baseline from which to measure possible improvements.

Confused?  Too much medical mumbo-jumbo?  A little homework will clarify much and have you well on your way to basic understanding!

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