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Read our 2023 Annual Report

SKDEAS 2023 Annual Report - Cover Page_e

We are thrilled to share some fantastic news with you! Thanks to your incredible support and generosity, we have exceeded our fundraising goal for our groundbreaking project on neurodevelopmental assessments for Skraban-Deardorff Syndrome.

 

Your contributions have made a real difference. These assessments are vital in understanding the multifaceted aspects of cognitive and behavioral development in individuals with Skraban-Deardorff Syndrome. This understanding is crucial not only for current knowledge but also for assessing the effectiveness of future treatments and interventions.

 

We are proud to collaborate with Dr. Thomas Frazier at John Carroll University, Ohio, in this endeavor. Dr. Frazier, renowned for his research on Autism Spectrum Disorder (ASD) supported by the National Institutes of Health (NIH) and the Simons Foundation, brings invaluable expertise to our project. His development of innovative questionnaires and remote video tools is set to revolutionize how we conduct these important studies.

 

We have launched this study with our SKDEAS community and are more optimistic than ever about the potential impact of our work. Your support has been the backbone of this success.

 

We can't thank you enough for believing in our mission and contributing to a cause that promises to enhance our understanding and treatment of Skraban-Deardorff Syndrome.

 

Stay tuned for more updates as we embark on this exciting journey. Together, we are making a significant impact on the lives of those affected by Skraban-Deardorff Syndrome.

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Time flies, as the saying goes: A reflection of our first year.

It's remarkable to think that a year has already passed since we gathered in Philadelphia with families from around the globe, all connected by Skraban-Deardorff Syndrome. Following that inspirational meeting, a group of proactive parents established the Skraban-Deardorff Syndrome Foundation.

The foundation's primary objectives are to raise awareness, build community, fund research, and involve leading scientists in studying WDR26-related intellectual disabilities. We've been met with incredible generosity from our supporters, for which we are immensely thankful.

Our inaugural research initiative is an exciting Neurodevelopmental Assessment Study, spearheaded by Dr. Tom Frazier, a renowned expert in neurodevelopment. This study aims to deepen our understanding of cognitive and behavioral development in Skraban-Deardorff Syndrome patients. A clearer grasp of the developmental patterns associated with WDR26 gene changes will greatly inform the effectiveness of future treatments and interventions.

While we have secured initial funding to assess a limited number of children, our ambition is to include as many affected children as possible. To achieve this, we are launching a campaign to raise $26,000, enabling us to study an additional 20 children diagnosed with a WDR26-related intellectual disability. We would be grateful for your support in this endeavor.

Would you or someone you know consider contributing? The Foundation offers several ways to participate: you can send a check to the address provided, make a purchase from our store or buy a magnet, or simply click to donate online. Whichever method you choose, please know that your contribution will directly support this and other critical research efforts.


If you have any questions, please email info@skdeas.org Thank you for your care and consideration.


Yours sincerely,

Cara Skraban, MD
Human Genetics Attending Physician
Children’s Hospital of Philadelphia

Matt Deardorff, MD, PhD

Director of Translational Genomics

Children’s Hospital of Los Angeles

Your support means the world to us!

Mailing Address for Checks

Made payable to:

 

SKDEAS

14039 Hwy 74 E

Suite A6 #123

Indian Trail, NC 28079

Wire Transfer: Contact Us

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