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.

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Make a donation to support research for those affected by DDX3X Syndrome.

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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.

Scientific Advisory Board Members

Theresa Strong, Ph.D.

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Wendy Chung, M.D., Ph.D.

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Karlla Brigatti

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Elizabeth Berry-Kravis, M.D., Ph.D.

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Researchers represented at our DDX3X conferences have included:

Momentum to unlock the potential of individuals with DDX3X Syndrome continues to build as the rosters of researchers and diagnosed families grows each day.

Elliott Sherr, M.D., Ph.D.

Professor in Neurology and Pediatrics, Institute of Human Genetics and the Weill Institute of Neurosciences at the University of California, San Francisco (UCSF)
Debra L. Silver, Ph.D.

Associate Professor, Departments of Molecular Genetics and Microbiology, Cell Biology, and Neurobiology and Director of Graduate Studies at Duke Developmental and Stem Cell Biology
Sanchita Bhatnagar, Ph.D.

Associate Professor, Medical Microbiology and Immunology, University of California Davis Cancer Center, University of California Davis Medical School
Karlla Brigatti, M.S.

Research Operations Director, Clinic for Special Children
Randy J. Chandler, Ph.D.

Staff Scientist, National Human Genome Research Institute at the National Institutes of Health (NIH)
Silvia DeRubeis, Ph.D.

Assistant Professor, Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai
Maria Escolar, M.D.

Director of the Program for the Study of Neurodevelopment in Rare Disorders, Children’s Hospital of Pittsburgh of UPMC
Kevin Francis, Ph.D.

Assistant Professor, Department of Pediatrics at the Sanford School of Medicine at the University of South Dakota
Dorothy Grice, M.D.

Professor, Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai
Robert Jinks, Ph.D.

Professor of Neuroscience, Biological Foundations of Behavior program at Franklin & Marshall College
Bethany Johnson-Kerner, M.D., Ph.D.

Research Fellow, University of California, San Francisco (UCSF)
Jane Juusola, Ph.D.

Director of the Whole Sequencing Program, GeneDX
Kevin Strauss, M.D.

Medical Director, Clinic for Special Children
Linda Richards, Ph.D.

Professor of Neuroscience and Deputy Director, Queensland Brain Institute at The University of Queensland (Australia)

News

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 […]

Funding Available – Request For DDX3X Research Applications

Request for DDX3X Research Applications The DDX3X Foundation, a nonprofit organization dedicated to supporting research to advance theunderstanding and treatment of DDX3X mutations, announces the availability of funds to support […]

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 […]
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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

Read the full article DDX3X (Xp11.4) encodes a DEAD-box RNA helicase that escapes X chromosome inactivation. Pathogenic variants in DDX3X have been shown to cause X-linked intellectual disability (ID) (MRX102, MIM: 300958). The […]
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Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

Read the full article 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. […]
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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Read the full article Funding Information Research reported in this manuscript was supported by the NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under Award Number […]
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Read the full article 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 […]
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Dr. Sherr at University of California, San Francisco

As a pediatric neurologist, Elliott Sherr, M.D., Ph.D., 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 dysgenesis 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.
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Get Involved

Patient Registry

There is power in numbers. Join our patient registry to add your child to the growing number of individuals with DDX3X Syndrome.
Brain Development Study

Families interested in the research study, should first complete the intake form: https://redcap.ucsf.edu/surveys/?s=e5zvYW

Learn more and enroll in the UCSF Brain Development Research Program study.
Skin Sample Study

Contact Sherryann Wert at [email protected] to provide a skin sample of your child, as well as your own, to be stored at the Coriell Institute. For more information and FAQs visit: https://catalog.coriell.org/1…re/Donor-Portal-Home

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.