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Author: The DDX3X Foundation

DDX3X-Related Neurodevelopmental Disorder – Research Paper

DDX3X-Related Neurodevelopmental Disorder – Research Paper

DDX3X-Related Neurodevelopmental Disorder – Research Paper
Posted in Research
Chan Zuckerberg Initiative to Fund 30 Patient Groups, Aiming to Build a Model for Tackling Rare Disease

Chan Zuckerberg Initiative to Fund 30 Patient Groups, Aiming to Build a Model for Tackling Rare Disease

Chan Zuckerberg Initiative to Fund 30 Patient Groups, Aiming to Build a Model for Tackling Rare Disease
Posted in Press
Funding Available – Request For DDX3X Research Applications

Funding Available – Request For DDX3X Research Applications

Funding Available – Request For DDX3X Research Applications
Posted in Press
Strong Community Drives Support For DDX3X Research

Strong Community Drives Support For DDX3X Research

Strong Community Drives Support For DDX3X Research
Posted in Press
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

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

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
Posted in Research
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
Posted in Research
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
Posted in Research
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Posted in Research
Dr. Sherr at University of California, San Francisco

Dr. Sherr at University of California, San Francisco

Dr. Sherr at University of California, San Francisco
Posted in Research
Genetic testing solved Stilwell family’s medical mystery

Genetic testing solved Stilwell family’s medical mystery

Genetic testing solved Stilwell family’s medical mystery
Posted in Press
The DDX3X Foundation Fund, 2023.
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Sherr’s Brain Development Research Study
  • Study investigates the wide range of clinical presentations in people with the DDX3X mutation, as well as the biological mechanisms of how the DDX3X protein functions in the cell
  • Collecting data that will describe in more detail the imaging and clinical findings in children with DDX3X to better the range of challenges that children with variants in DDX3X may face
  • Developing a mouse model to understand how normal DDX3X function in the cell and how mutations in this gene can lead to cellular dysfunction and human disease
  • This research serves to provide families more information regarding outcomes and potential therapies for patients
  • More information about our study may be found on the website: https://brain.ucsf.edu/mutations-ddx3x-0
  • Families interested in the research study, should first complete the intake form: https://redcap.ucsf.edu/surveys/?s=e5zvYW
  • The UCSF team will follow up within a week
  • You may also contact the UCSF team at [email protected] regarding any questions related to the study, publications, etc. 
Mt. Sinai Study
  • Goal of this study is to gain a better understanding of individuals with DDX3X syndrome
  • Participation includes a comprehensive battery of evaluations by experts in psychiatry, psychology, medical genetics, and neurology, with the aim of studying DDX3X syndrome across the life span
  • Learn if your child qualifies for any of the DDX3X studies at the Seaver Autism Center by contacting the team’s Senior Genetic Counselor, Tess Levy, CGC at [email protected]