Our ultimate goal over the coming years is to accelerate brain function in individuals affected by DDX3X through advances in gene therapy and pharmaceuticals.
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 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.
So far, in 2018, two DDX3X papers have been published: A March 18, 2018 paper builds upon the previously published paper and the May 11, 2018 paper, featuring 78 individuals, is the largest clinical cohort to date.
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.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence...
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID), one of the most common causes of ID, in females. Forty-seven patients (44 females, 3 males) have been described. We identified 29 additional...
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
De novo germline mutations in the RNA helicase DDX3X account for 1-3% of unexplained intellectual disability (ID) cases in females, and are associated with autism, brain malformations, and epilepsy. Yet, the developmental...
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.
NATURAL HISTORY STUDY, CHILDREN'S HOSPITAL OF PITTSBURGH OF UPMC
Board certified in neurodevelopmental disabilities, Maria Luisa Escolar, MD, MS established the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) to help children and their families understand the impact of rare neurological diseases on child development. In late 2017, Dr. Escolar began seeing individuals with DDX3X gene mutations in her clinic. Rare diseases, especially newly discovered disorders like DDX3X gene mutations, are poorly understood. As more and more patients participant in Dr. Escolar’s natural history study—consisting of several evaluations, an MRI, and an exam—their journey adds to a collective body of knowledge to help families meet the challenges of day-to-day life with DDX3X and science advance research on rare condition.
SKIN SAMPLE STUDY, 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 ([email protected] 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).
Natural History Study
Contact program coordinator Mary Brannaman ([email protected] or 412-692-6350) to schedule an appointment.
Skin Sample Study
Contact Tara Schmidlen ([email protected] or 856-757-4822) to provide a skin sample of your child, as well as your own, to be stored at the Coriell Institute.
There is power in numbers. Join our patient registry to add your child to the growing number of children with DDX3X.