We have only begun to understand the nature of the clinical features related to WDR26 mutations. We are actively working to improve this understanding and to understand the variation between individuals.
Furthermore, the function of WDR26 in causing human disease is unclear, and we are working to better understand its role in cell biology and human development.
The overall aims of our research are:
- To identify additional patients with mutations in WDR26
- To characterize the clinical spectrum of SKDEAS
- To identify individuals with features resembling SKDEAS, but without an identified cause
- To better study the cellular problems caused by mutations in WDR26.
For these studies, we request (1) clinical and genetic information and/or (2) photographs of individuals to better understand the clinical variability of WDR26 mutations. Where possible, we would also like to (3) collect a blood sample, urine, and/or serum sample to study the effect of these mutations.
Interested clinicians and families can submit clinical data into the database. Please consider written consent for photographs and storage of medical information. Please feel free to contact us at wdr26@email.chop.edu for any questions regarding clinical, molecular or cellular studies.