Funded Projects

2017-2018 – Dr. Elliott Sherr, University of California San Francisco

Dr. Sherr and his team undertook a clinical study of more than 50 girls with the DDX3X mutation. As part of this clinical study, the team investigated meaningful associations between the specific type of genetic mutation in DDX3X, structural changes seen in brain imaging, and the intellectual, social, and physical limitations these girls face. By understanding these associations, imaging allows us to predict clinical outcomes. In addition to this clinical study, Dr. Sherr and his team worked to advance three lines of investigation into the biology of DDX3X as a prelude to determining what routes to targeted treatments may be possible. These steps included testing protein function, creating, and testing cell lines, and developing/testing an animal model. The DDX3X Foundation funded a Postdoctoral Researcher for two years to work on the steps outlined above, as well, as the development of a mouse model.

2020 – Dr. Debby Silver, Duke University

The DDX3X Foundation funded Dr. Silver’s research to generate and characterize a new mouse model for DDX3X Syndrome. Specifically, the generation of a mouse which contains the T532M mutation. This research also covered the initial characterization of this mouse model. Dr. Silver and her team used their novel, conditional Ddx3x mouse model to assess how the mutation affects neural stem cell proliferation and neuronal generation.

2020-2021 – Dr. Elliott Sherr, University of California San Francisco

The DDX3X Foundation funded Dr. Sherr’s research to generate new iPSC lines with a full range of function, including the mother and child with the following mutations in the daughter and the mother’s sample serving as a control: the S58* mutation and the T532M mutation, to provide a broad range of genetic causes and phenotypes. Dr Sherr’s research includes testing all lines, measuring differentiation in progenitor cells, measuring markers of neurons, and ultimately identifying DDX3X translational networks.

2021 – Dr. Adele Mossa, Mt. Sinai

Dr. Mossa was selected as a winner of the Uplifting Athletes Young Investigator Draft for her work on DDX3X Syndrome in the De Rubeis Lab. The DDX3X Foundation matched the $10,000 grant for a total of $20,000 for Dr. Mossa’s continued work on DDX3X mutations.


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