Research
Our ultimate goal over the coming years is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in gene and cell therapy as well as pharmaceuticals.
The DDX3X Foundation understands that a strong, collaborative, patient-focused research-network is critical to finding a cure for DDX3X Syndrome. In late 2014, the first patient with a DDX3X gene mutation was identified in the United States and by year-end, eight girls had been diagnosed. Since that time, we have formalized our patient-led collaborative research network in partnership with clinicians and scientists.
Born in 2015 and made official with the IRS as a 501(c)3 nonprofit in December of 2017, the DDX3X Foundation’s ambition has been to accelerate brain function in individuals affected by DDX3X Syndrome through the creation of a patient-led research-network focused on advancing cell and gene therapy and pharmaceuticals. Since 2015, we have facilitated the acceleration of research of DDX3X Syndrome by increasing the network of researchers from one to more than 20 and scientific papers from one to more than 130. We have accomplished this work through annual research conferences that bring together patients, families, and scientists, a patient registry, formation of a robust Scientific Advisory Board, and countless hours of networking with researchers from around the world.
News
Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations
Learn more here. A note from Dr. Silver’s Lab – In this study we found that different types of mutations in DDX3X lead to unique alterations in neural cells. This […]
DDX3X-Related Neurodevelopmental Disorder – Research Paper
Learn more via the paper here. GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial […]
Chan Zuckerberg Initiative to Fund 30 Patient Groups, Aiming to Build a Model for Tackling Rare Disease
Originally posted on STAT by Rebecca Robbins on February 3, 2020 SAN FRANCISCO — When Facebook founder Mark Zuckerberg and his spouse Dr. Priscilla Chan in 2016 vowed to get all diseases […]
Research Publications
- Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
– Aldinger, Snijders-Blok, Silver, Sherr - DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation
– Berry-Kravis - DDX3X syndrome: From clinical phenotypes to biological insights
– De Rubeis - Prospective and detailed behavioral phenotyping in DDX3X syndrome
– De Rubeis - Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X
– De Rubeis - Expanding the understanding of DDX3X-related neurodevelopmental disorder in males
– De Rubeis - A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X
– De Rubeis, Boitnott - Determinants of DDX3X sensitivity uncovered using a helicase activity in translation reporter
– Floor - A novel reporter for helicase activity in translation uncovers DDX3X interactions
– Floor - Dual targeting of DDX3 and eIF4A by the translation inhibitor rocaglamide A
– Floor - Analog sensitive chemical inhibition of the DEAD-box protein DDX3
– Floor - Autoinhibitory Interdomain Interactions and Subfamily-specific Extensions Redefine the Catalytic Core of the Human DEAD-box Protein DDX3
– Floor - Genome-wide quantification of RNA flow across subcellular compartments reveals determinants of the mammalian transcript life cycle
– Floor - A ubiquitous GC content signature underlies multimodal mRNA regulation by DDX3X
– Floor, Silver - Aberrant cortical development is driven by impaired cell cycle and translational control in a DDX3X syndrome model
– Floor, Silver - Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations
– Silver - DDX3X-related neurodevelopmental disorder in ales – presenting a new cohort of 19 males and a literature review
– Snijders Blok - DDX3X-related Neurodevelopmental Disorder
– Snijders Blok, Sherr - Diverse mechanisms of DDX3^ suppression by DDX3X
– Wei - The RNA helicase DDX3 induces neural crest by promoting AKT activity
– Wei
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Contact Us
If you have any questions about any of these research opportunities or want to simply get in touch to learn more, please don’t hesitate to contact us.