Several key aspects of research are needed as we work toward developing better treatments for
children with changes in the WDR26 gene.

One element, “Natural History,” is to understand, as much as possible, the clinical features of children
with SKDEAS: what makes them unique, and which features might be best used to assess future
treatment approaches. Dr. Tom Frazier and his team at John Carroll University have been conducting at-
home neurodevelopmental assessments to better understand the developmental features of patients
with Skraban-Deardorff syndrome. This work is beginning to hit its stride, and early results are being
analyzed.

A second aspect of research, “Basic Science,” will help us begin to understand how the changes in
WDR26 affect the cells of the body and how the brain develops. Early work in this area by Dr. Deardorff
focused heavily on the fact that changes in the WDR26 gene reduce the amount of active WDR26 being
made. Additional research in a complementary field is in progress, and efforts from Dr. Brenda
Schulman are leading us to think carefully about how the WDR26 protein works, and how changes in it
disrupt function in the large and multifunctional CTLH protein complex.

A third component, “Translational Research,” often takes what we know from the “Basic Science” and
starts to apply that understanding to developing treatments. Several years ago, the parents of a child
with SKDEAS began working with a pharmaceutical re-purposing company, Transcripta Bio, to see if any
previously FDA-approved drugs might improve the amount of active WDR26.

After researchers screened thousands of drugs and followed several leads in the lab, a chemotherapy
drug was found that may be able to increase the amount of WDR26 being made. Additional work is
underway to determine whether the drug levels needed to improve WDR26 amounts could be safely
given. To help extend this understanding to as many children as possible, The Skraban-Deardorff
Syndrome Foundation is using $19,800 to support a two-part research project that will measure this
observation for additional WDR26 changes. This work will also likely generate many more questions,
therefore requiring further research in order to lead us to better understanding of SKDEAS.

 

For more details about these various initiatives and more, please contact the SKDEAS Foundation at info@skdeas.org.