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
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]
