A Better World for People with CHARGE Syndrome
First presented at Professional Day during the 12th International CHARGE Syndrome Conference, a paper on updated diagnostic criteria has just been published by the Amerian Journal of Medical Genetics. Amongst the authors are two of our own: Caitlin Hale, a 2015 Sandra Davenport Fellow, and Donna Martin, the chair of the Foundation's Scientific Advisory Board.
In this paper, the authors examine genotype and phenotype data from individuals being considered for a diagnosis of CHARGE. They summarize current data on pathogenic CHD7 variant positive individuals who have atypical clinical presentations of CHARGE and propose a revision to the present clinical diagnostic criteria that includes pathogenic CHD7 variant status.
Our Children Will Thrive
Read about the Alice
Cogswell & Anne Sullivan Macy Act, which has the support of the CHARGE Syndrome Foundation and the National Family Association for Deafblind. The CHARGE Foundation and NFADB have a strong commitment to provide parents with the
necessary information and tools needed to effectively advocate for the education of their
children who are deaf-blind. Our combined efforts will be compensated in the future when
everyone, parents, professionals and Congressional representatives, are familiar with the needs of children who are deaf-blind. Follow the link below to learn more about the act and about what YOU can do.
Ethan Wolfe Recreational Assistance Program
David Wolfe presented the first recipients of the Ethan Wolfe Recreational Assistance Program at conference. You can see pictures of Mark, Hannah, Ryder, Landon, Jon, Samuel, Antonio and Cody and read about programs or equipment for which they applied and received funding through this Foundation program.
CHARGE Syndrome Research
The Foundation is trying to foster more CHARGE research around the world. In addition to funding an increasing number of projects, the CHARGE Syndrome Foundation is working in partnership with Saint Louis University to create the CHARGE Syndrome Clinical Database Project (CSCDP). To help researchers obtain data on CHARGE syndrome, please participate in this web-based questionnaire.
2015 Pilot Grant Recipients
We are very pleased to announce the recipients of the 2015 Foundation Pilot Grants: Philip Gage, PhD (University of Michigan), Faith Liebl, PhD (Southern Illinois University), Kathrin Schmeisser, PhD (Université de Montréal) and Kai Jiao, MD, PhD (University of Alabama at Birmingham)
Read more about their projects here:
The CHARGE Syndrome Foundation is a 501(c)(3) charitable organization. All donations are tax deductible to the extent allowed by law. Your donations help fund research, publications, educational programs, the biennial conference and family outreach. For more information, please contact our fundraising committee.
Learn more about our special Charge It for CHARGE Fundraiser. You can donate or become a fundraiser to help!
CHARGE Syndrome Conference