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CHARGE Syndrome Foundation
Research Update:

We are pleased to announce the publication of a recent study supported by the CHARGE Syndrome Foundation.  Our thanks to these scientists for their complex work to unlock the mysteries of CHARGE syndrome.

Researchers Sperry, Hurd, Durham, Reamer, Stein and Martin explored the craniofacial features of mice with mutations in CHD7, the gene that is altered in CHARGE syndrome.  By analyzing mice with disruptions in one or both copies of the CHD7 gene, the authors showed that CHD7 is essential for normal development of the nose, mouth, and palate.  Further, the authors found that CHD7 is required for proper formation of the airway.

Understanding the role of CHD7 during origin and growth of organs is critical for the development of effective therapies.  This study shows that mice indeed can be useful in future studies to further examine airway issues and develop treatments and therapies where possible. 

The timeline and nature of these future therapies is unknown.  However, we at the Foundation do believe that it is essential that we support this kind of research so that possibilities can become realities.

If you have questions regarding this research, please contact us at

Sperry, E. et al., "The Chromatin Remodeling Protein CHD7, Mutated in CHARGE Syndrome, is Necessary for Proper Craniofacial and Tracheal Development."  Developmental Dynamics, 00:000-000, 2014 

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