In late 2014 the first patient with a DDX3X gene mutation was identified and by yearend eight girls had been diagnosed. In the following months, researchers from around the world collaborated to investigate DDX3X gene mutations. The culmination of their work led to the August 6, 2015 peer-reviewed paper published in The American Journal of Genetics. This first DDX3X report created a correlation, a community, and this organization.
Since 2015 the DDX3X Foundation has been connecting families, resources, and the medical community to advance research for a cure to DDX3X gene mutations. Annually, the Foundation hosts a weekend conference for families and researchers. Researchers represented have included:
- Jane Juusola, PhD, Director of the Whole Sequencing Program, GeneDX
- Robert Jinks, PhD, Professor of Neuroscience, Biological Foundations of Behavior program, Franklin & Marshall College
- Kevin Strauss, MD, Medical Director, Clinic for Special Children
- Karlla Brigatti, MS, Genetic Counselor, Clinic for Special Children
- Elliott Sherr, MD, PhD, Professor in Neurology and Pediatrics, Institute of Human Genetics and the Weill Institute of Neurosciences at the University of California, San Francisco (UCSF)
- Linda Richards, PhD, Professor of Neuroscience and Deputy Director, Queensland Brain Institute at The University of Queensland (Australia)
- Maria Escolar, MD, Director of the Program for the Study of Neurodevelopment in Rare Disorders, Children’s Hospital of Pittsburgh of UPMC
Determined to advance research, the DDX3X Foundation began the process to become a 501(c)(3) nonprofit to find a cure. A partnership with Delaware Community Foundation was formed to raise money in the interim. The Foundation has contributed more than $120,000 for DDX3X research at Dr. Sherr’s lab at UCSF and sixty DDX3X families have enrolled in his lab’s brain development research program.
A second DDX3X paper published March 18, 2018 by the Department of Molecular and Human Genetics at Baylor College of Medicine is one of two DDX3X reports expected to be published in 2018.
Momentum to unlock the potential of individuals with DDX3X gene mutations continues to build as the rosters of researchers and diagnosed families grows each day.
Dr. Sherr at University of California, San Francisco
As a pediatric neurologist, Elliott Sherr, MD, PhD has spent a significant portion of his career studying the brains of children with malformations. When a beautiful young girl presented in his clinic with agenesis of the corpus callosum, he went above and beyond to help her family find answers—which ended up being a mutation of her DDX3X gene. Three years later he is going above and beyond for all children with DDX3X mutations. Individuals with DDX3X are included in his lab’s Brain Development Research Program which seeks to better understand the function of the DDX3X gene.
Please join our patient registry as well!
Skin Sample Study at the Coriell Institute
The study of skin biopsy samples from individuals with DDX3X gene mutations could allow researchers to improve the function of the mutated DDX3X gene. Parents interested in providing a skin sample of their child, as well as their own, to be stored at the Coriell Institute should contact Tara Schmidlen (firstname.lastname@example.org or 856-757-4822). Tara is the genetic counselor and coordinator who works closely with a host of patient registries and individual families and can help work out the logistics of providing a sample. Be sure to specify that your child has a DDX3X gene mutation
The Coriell Institute is a large public biobank with a long and successful experience banking patient samples for a host of different genetic disorders. Stored samples will allow researchers from around the world to access them for free if they’re contributing to the bank (or the researcher who has contributed gives them access). For more information.
One Mother’s Experience
Beth, a DDX3X mother, had this to say about the process of taking a skin biopsy.
“Hi everyone! Yesterday we did the skin cell samples at the Clinic for Special Children to be sent to Coriell. It was pretty easy! Dr. Strauss gave us a shot for pain (like novocaine at the dentist) in our upper arm and that was the worst part, but for me the process was easier than getting blood taken. Then they take a little sample out of your arm and send it off and put a bandaid over the spot and it is over. Virginia didn’t even cry!”