Skraban-Deardorff Syndrome (SKDEAS) is a rare genetic disorder, first described in 2017 at the Children's Hospital of Philadelphia (CHOP), caused by variants or microdeletions in the WDR26 gene. Symptoms of SKDEAS vary from patient to patient but can include varying degrees of developmental delays, speech delays, delays in motor skill development, and seizures. Patients are diagnosed via whole exome sequencing, a genetic test that examines the sequencing of more than 20,000 protein-coding genes in a patient's DNA. Most individuals have a new (de novo) change in the WDR26 gene that they did not inherit. Because this disorder has been identified so recently, there is no cure or treatment for SKDEAS, and the long-term outlook for patients is not yet fully known[1].
In July, Coriell's team attended the Skraban-Deardorff Syndrome family meeting at the Children's Hospital of Philadelphia, hosted by the Skraban-Deardorff Syndrome Foundation. Since 2018, the Foundation has hosted its biennial Skraban-Deardorff Syndrome Family Meeting, where families from all over the world can meet, engage, and share information. This year was their largest gathering to date.
As families heard from CHOP experts and leaders about research on the syndrome, including Dr. Cara M. Skraban and Dr. Matthew A. Deardorff, our team worked alongside phlebotomists to collect more than 40 samples from affected individuals and their families to support SKDEAS research. Thank you to the SKDEAS Foundation and CHOP for having us.
Established in 1972, the NIGMS Human Genetic Cell Repository at Coriell contains some of the most scientifically impactful and widely used cell lines globally, representing a broad spectrum of disease states, chromosomal abnormalities, and diverse human populations. Coriell also hosts five other NIH-funded biobanks, distributes thousands of samples each year, and provides research and biobanking services to scientists worldwide.
[1] Skraban, C. Skraban-Deardorff Syndrome. Children’s Hospital of Philadelphia, https://www.chop.edu/conditions-diseases/skraban-deardorff-syndrome
