Research - History
The first cases of what is now known as CHARGE syndrome were published in 1979. Between 1979 and 1985 little research was done. In 1985 there were six articles published. In 2005, there were 33, thanks in part to a special issue of the American Journal of Medical Genetics 133A(5), which was devoted to CHARGE syndrome. Since then more research has been conducted and published. In July 2010 CHARGE Syndrome: A Volume in the Genetics and Communication Disorders Series was published by Plural Publishing, edited by Timothy S. Hartshorne, Margaret A. Hefner, Sandra L. H. Davenport, and James W. Thelin. This volume summarizes research performed between 1979 and 2009 that spans the full spectrum of CHARGE syndrome’s impact on the physical, emotional, behavioral, and intellectual lives of those born with CHARGE and their families. We are pleased to advise that there are now dozens of research projects which involve CHARGE syndrome. Despite increased interest in CHARGE, much more research is needed to better understand the causes, treatment and management of this complex syndrome.
The CHARGE Syndrome Foundation is dedicated to the support and promotion of scientific and clinical research. A Scientific Advisory Board has been established to provide the Foundation with advice and guidance on the review, administration and implementation of scientific research grants. Our Research Committee concentrates its efforts on clinical and survey-based research projects. Together, the Scientific Advisory Board and Research Committee hope to promote and fund increased research in CHARGE.
The Scientific Advisory Board (SAB) was established in 2011 to serve as a scientific resource, assisting in the identification, funding and development of scientific research projects. The formation of this new advisory board demonstrates our commitment to high quality scientific research. Members of SAB consist of leading scientists and medical doctors with extensive research experience. We are fortunate to have such a wealth of knowledge and experience help guide the Foundation.
2015 Pilot Grant Recipients:
Philip Gage, Ph.D. at University of Michigan
Project Title: Analysis of ocular functions of CHD7 in mouse modes of CHARGE Syndrome
Faith Liebl, Ph.D. at Southern Illinois University
Project Title: Assessing the role of Kismet and CHD7 in synapse development and function using the Drosophila neuromuscular junction
Kathrin Schmeisser, Ph.D. at Université de Montréal
Project Title: Rapid drug discovery in genetic models of CHARGE Syndrome
Kai Jiao , M.D., Ph.D. at University of Alabama at Birmingham
Project Title: Regulation of gene expression by CHD7 in embryonic cardiomyocytes
2014 Pilot Grant Recipients:
Dr. Ruchi Bajpai at University of Southern California
Project Title: Identifying negative regulators of CHD7 as potential therapeutic targets for CHARGE
Fumiaki Imamura, Ph.D. at Pennsylvania State University
Project Title: Role of CHD7 in Nerve Formation
Allison Bardin, Ph.D. at Institut Curie
Project Title: Exploring the link between CHD7 and the COMPASS-like complex
Dr. Conny van Ravenswaaij-Arts at University Medical Center Gronigen
Project Title: Neurological Functioning and Cerebellar Anomalies in CHARGE syndrome
2013 Pilot Grant Recipients:
Peter Scacheri, Ph.D. at Case Western Reserve University
Project title: Human iPS cells as a model for the study and treatment of CHARGE syndrome
Mats Ljungman Ph.D. at University of Michigan
Project title: Use of Bru-Seq to explore the role of CHD7 in gene expression
Michael E. Talkowski, Ph.D. at Harvard Medical School:
Project title: Cryptic Genetic Causes and Modifiers of CHARGE syndrome
2012 Pilot Grant Recipients:
Ching-Pin Chang, M.D., Ph.D. Stanford University School of Medicine
Project title: Heart development and CHARGE syndrome.
Kelvin Y. Kwan Ph.D. Rutgers University
Project title: Identification of Molecular Markers to Determine Cochlear Implant Candidacy in CHARGE syndrome.
Robert Hevner, M.D., Ph.D. University of Washington
Project title: Cerebral cortex development in a mouse model of CHARGE syndrome
Elizabeth A. Hurd, Ph.D and Adam B. Stein, M.D. University of Michigan
Project title: Investigating the role of Chd7 in neural crest lineage cells.
The Research Committee (RC) was formed in 2009. Its primary purpose is to review survey-based and clinical research proposals. The RC also helps connect researchers with appropriate information and/or participants. In addition, the RC helps keep track of existing research and advises the membership of new developments, research studies and research related information.
The RC is chaired by Ms. Meg Hefner, Genetic Counselor, Associate Professor Saint Louis University, Special Advisor, CHARGE Syndrome Foundation. Membership currently consists of members of the Foundation who have an interest in encouraging and expediting research projects that support the mission of the Foundation. The membership consists of parents and professionals and is open to any member of the Foundation.
CHARGE Syndrome Foundation Request for Proposal
The Research Committee published its initial version of a formal
(RFP) in October 2010. We invite professionals interested in
performing research related to CHARGE Syndrome to download this
RFP and submit a proposal.
- Click here to download the Request for Proposal (PDF, 12.16K)
Current Research Projects Approved by Board
Known Independent Research
Click on the link below to review a summary list of research presented at the 2007 and 2009 conferences.
- Past Research Presented at Conferences
- The past conferences information page provides more comprehensive information on these presentations.
Topics for Consideration for Future Research for CHARGE syndrome
Click on the link below to review a list of suggested topics.