Mar 29 2024 32 mins
Discover the groundbreaking strides being made in research on the WDR26 mutation as I talk to Dr. Thomas Frazier and his Research Coordinator, Katie Huba. This episode takes us through a new path towards understanding and improving the lives of those affected by rare genetic conditions. Dr. Frazier talks to us about his new study that leverages parent-reported questionnaires and innovative webcam assessments to unravel the cognitive and behavioral patterns in individuals with Skraban-Deardorff Syndrome.
Research into rare diseases often brings a mix of apprehension and optimism. Here, we tackle the details of study participation, addressing the eligibility concerns of parents while highlighting the transformative benefits for their children. This conversation is an invitation to view research not as a daunting task, but as a means to glean a deeper understanding of your child's needs, offering strategic insights for the present and a beacon of hope for future medical advancements.
As we explore the ways in which this study could transform care for those with WDR26 mutations, we invite eligible participants to join this collective effort. Please reach out to Katie Huba to discuss:
[email protected].
You can also find more information at skdeas.org/research.
Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.