With the founding of the non-profit Skraban-Deardorff Syndrome Foundation in 2022, funds are being raised to allow for research to better understand the role of the WDR26 gene in human development and to investigate potential treatment and management options for Skraban-Deardorff syndrome. The following is a list of research projects we are working toward:
(1) Neurodevelopmental Assessments
Developmental assessments capture multiple aspects of cognitive and behavioral development. These assessments will allow us to optimally understand developmental features of Skraban-Deardorff syndrome at their current age and over time. Understanding this is essential to be able to determine whether children respond to future potential treatments or interventions.
These neurodevelopmental assessments are being performed in collaboration with Dr. Thomas Frazier at John Carrol University in Ohio, as a supplement to his research on Autism Spectrum Disorder (ASD) supported by the National Institutes of Health (NIH) and the Simons Foundation.
He has developed a series of questionnaires and remote video tools to perform these studies.
A pilot study implementing these neurodevelopmental assessments for a small number of patients with Skraban-Deardorff syndrome is currently nearing opening.
(2) National Organization for Rare Disorders (NORD)
Since 1983, NORD has been a national steward and a steadfast partner helping those who battle and care for rare disease feel seen, heard, supported and connected. It is a full-service, mission-driven nonprofit reimagining a future where every person with a rare disease, and their families live their best lives.
NORD was the first national nonprofit to represent all individuals and families affected by rare disease. Today they are the only organization working at the intersection of care, research, policy and community for all rare diseases.
As of August 2023, Skraban-Deardorff syndrome is included in the registry of rare genetic disorders developed and maintained by NORD. Registering with NORD will facilitate connections with new patients and families, as well as other rare disease working groups.
(3) Cell Line Studies/Brain Organoid Models
Many of the features of Skraban-Deardorff syndrome, including seizures and cognitive features, relate to the developing brain. The cause of these symptoms is very difficult to study in individuals. However, using cell lines and brain organoid models derived from human cells that contain a loss-of-function WDR26 variant can enable us to study the function of WDR26 inside cells. Cell lines and brain organoid models also offer a strategy for studying potential therapeutics before testing them in animal models.
(4) Mouse Model
Mouse models are often used to understand the role of genes in a developing brain and what happens when they are altered. The development of a mouse model with a loss-of-function WDR26 variant to simulate Skraban-Deardorff syndrome will serve as an important tool for understanding Skraban-Deardorff syndrome, as well as in testing the efficacy of certain interventions and therapeutics.
A biorepository is a centralized collection of patient samples that can be used for various research studies. Developing cell lines from patient samples allows for ongoing research without requiring repeat sample collections over time. Our aim is to establish a biorepository of samples from Skraban-Deardorff syndrome individuals that will be made available to the wider research community. While the costs to patients and families are typically low, there are costs associated with maintaining a biorepository include sample collection, processing, establishing cell lines and storage.
For more details about these various initiatives and more, please contact the SKDEAS Foundation at email@example.com.