What we learned at the Philadelphia family conference

Last month our family traveled to Philadelphia to take part in the 4th annual DDX3X conference. As I’ve written in previous posts, these conferences have multiple purposes, but for the sake of brevity, I’ll only highlight the research updates as it relates DDX3X in this post.

Twelve world-renowned scientists traveled from around the country to participate in the conference. On the first day, the researchers participated in a roundtable discussion to share their progress and consider ways to collaborate. The following day they presented their findings to approximately 35 DDX3X families from the US and Canada. Their presentations showcased the incredible progress they have made as well as mapping out the road ahead. 

The chief researchers, the Sherr Lab at UCSF, led by Dr. Elliot Sherr, continue their work to understand the basic science behind how mutations of the DDX3X gene impact brain development and function. Their work with induced pluripotent stem cells has led to a greater understanding of the expression of the DDX3X gene and its function in the development of the brain. The Sherr Lab has also enrolled over 80 DDX3X individuals in their study examining the individual’s clinical presentation and how it correlates to that individual’s unique mutation. They are also working to develop a “knock-in” mouse to examine how missense mutations affect brain development in the mouse model.

Emelyn befriended Ruiji Jiang, a graduate student in Dr.
Sherr's lab, in hopes of having a few clicks on his laptop. 

The Sherr Lab recently collaborated with Dr. Debby Silver and members of the Silver Lab from Duke University in a study entitled Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development. This paper will be published next year. Dr. Silver also came to Philadelphia and discussed her lab’s multi-pronged approach to thinking about mechanisms of disease produced by the DDX3X mutation. In particular, her lab is interested in prenatal brain development and is using a mouse model to understand neural generation and proper neural migration. 

Mariah Hoye, a fellow and postdoctoral research associate
from Duke Institute for Brain Sciences, and Emelyn hit it off.
Mariah shared her experience at the conference in this article. 

The Seaver Center at Mount Sinai has identified DDX3X as one of its top research priorities and has a new lab, led by Dr. Silvia De Rubeis, which is dedicated to the study of DDX3X. The lab has developed a DDX3X mouse model and is currently undertaking research on the mice to better understand the impact of the mutation on social, cognitive, sensory, and brain tissue development. Additionally, Mount Sinai is also enrolling DDX3X patients in their clinical research program to better understand the clinical aspects of the gene mutation. Mount Sinai hopes to combine the findings of these studies to identify potential therapeutics that may be ultimately brought to clinical trial.

Dr. Maria Escolar, Director of the Program for the Study of Neurodevelopment in Rare Disorders at the University of Pittsburgh, continues to enroll families in her DDX3X natural history study. These detailed studies provide information on the course of the disorder as the children develop over time with the ultimate goal of creating a well-defined benchmark and an appropriately designed clinical trial once a therapeutic is identified. Currently, Dr. Escolar and her team have ten children enrolled in her study and continue to recruit new patients. 

Dr. Sanchita Bhatnagar from the Neuroscience Department at the University of Virginia, attended and detailed her previous work on X reactivation for Rett Syndrome. Dr. Bhatnagar is extending this research to look at ways in which to induce the unaffected DDX3X gene in the second X chromosome to express itself.

We were thrilled to meet Dr. Bhatnagar from UVA. We plan
 to visit her on our next trip to UVA with Emelyn.

The DDX3X Foundation, which has no paid staff, has reached a critical point where we have an extraordinarily teams of researchers focused on curing this condition, but more funding is needed to expand resources. Because of the leadership of parents, 100% of all money raised goes directly towards research.

Our family is grateful to this incredible team of researchers and the parent leadership of the DDX3X Foundation for making the 4th annual conference a reality. Assembling twelve world-renowned scientists in a room together, plus coordinating food, hotel, and activities for 35 special needs families is no easy feat, but a group of dedicated parents, led by Beth Buccini and Liz Berger, made it happen.

Our family is doing our part—we have enrolled Emelyn in multiple DDX3X studies; we travel to DDX3X conferences to meet other families and researchers (often giving up our own vacations); we write (ok, I write, Patrick proofreads) website copy, blog entries, and even a thesis about DDX3X; we share in successes and heartbreak with other families as we raise children with similar challenges to Emelyn; and we raise money to further research.

We invite you to join us in our efforts by making a tax-deductible donation to the DDX3X Foundation in honor of Emelyn at ddx3x.org.

Our family thanks you in advance for your consideration!