Funded Projects
2023 – Center of Excellence, University of California, San Francisco
The DDX3X Foundation has officially named UCSF as a Center of Excellence for DDX3X Syndrome where the DDX3X Natural History Study will be conducted. Centers of Excellence will provide the best clinical care available for individuals affected by DDX3X Syndrome as well as increase understanding of the syndrome by participation in the Natural History Study as we continue to fund research for treatments.
2023 – Center of Excellence, Rush University
The DDX3X Foundation has officially named Rush University as a Center of Excellence for DDX3X Syndrome where the DDX3X Natural History Study will be conducted. Centers of Excellence will provide the best clinical care available for individuals affected by DDX3X Syndrome as well as increase understanding of the syndrome by participation in the Natural History Study as we continue to fund research for treatments.
2023 – Dr. Andrea Boitnott, University of Texas Southwestern
The DDX3X Foundation awarded the first DDX3X Foundation Fellowship to Andrea Boitnott, a Biomedical Sciences PhD Candidate at UT Southwestern Medical Center in Dallas, Texas to continue pursuing research on DDX3X Syndrome. Her research in the Gray lab focuses on gene therapy for rare monogenic neurodevelopmental disorders, including DDX3X Syndrome. This is not her first involvement with the DDX3X community, however, because for two years prior to starting the PhD program, Andrea worked as a Research Associate at Mount Sinai Hospital in New York City with Silvia De Rubeis, PhD. In the De Rubeis lab, Andrea characterized a novel mouse model for DDX3X syndrome that is now being used in her current gene therapy studies.
2023 – Dr. Steven Gray, University of Texas Southwestern
Investigators at UT Southwestern Medical Center (led by Drs. Xin Chen and Steven Gray) are exploring the feasibility and potential for a gene therapy approach for DDX3X Syndrome in the mouse model of the disease. They are using an approach with an adeno-associate virus 9 vector which they’ve used successfully to initiate gene therapy clinical trials for other disorders including Rett syndrome, Batten disease, Giant Axonal Neuropathy, and Spastic Paraplegia Type 50.
2022 – Dr. Larry Reiter, University of Tennessee
The DDX3X Foundation funded the Reiter Lab’s collection of patient-derived dental pulp stem cell (DPSC) cultures differentiated into neuronal lineages. The lab’s current collection includes over 200 unique stem cell lines from individuals with 14 different neurodevelopmental disorders. They have published the cell growth parameters, model efficacy, and similarity to other stem cell systems, and leverage molecular biology approaches against their unique DPSC collection to examine gene expression in other genetic disorders.
2021 – Dr. Stephen Floor, University of California, San Francisco
The DDX3X Foundation had funded Dr. Stephen Floor’s lab to establish cell-based assays for DDX3 function. This work will yield positive and negative signal in-cell DDX3 activity assays which will enable screening for compounds that act as DDX3 inhibitors, as DDX3 activators, or as indirect activators or inhibitors of DDX3-dependent mRNAs.These assays will be broadly useful for basic science, therapeutic lead discovery, and optimization of multiple therapeutic modalities.
2021 – Dr. Debby Silver, Duke University
As a follow-on to the research previously funded by The DDX3X Foundation to develop a mouse model for DDX3X Syndrome, The Foundation has funded the development of high-throughput assays to distinguish and classify different types of DDX3Xmutations. This work is critical to understanding and defining classes of DDX3Xmutations, and to eventually developing viable therapeutics for the diverse mutations associated with DDX3X Syndrome.
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.
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.
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.
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.