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What is Skraban-Deardorff Syndrome?

 

First identified in 2017 by Dr. Cara M. Skraban and Dr. Matthew A. Deardorff, Skraban-Deardorff Syndrome, also known as WDR26-Related Intellectual Disability, is a rare genetic disorder characterized by developmental delay, intellectual disability, seizures and subtle facial differences. Drs. Skraban and Deardorff tell us that another common attribute is that individuals with this diagnosis, young and old, are happy, affectionate, and have smiles that light up the world. Parents remark that they are immediately loved by everyone they meet.

 

 

The Skraban-Deardorff Syndrome Foundation

 

The Skraban-Deardorff Syndrome Foundation has been formed by parents and medical professionals worldwide to foster relationships and organize resources to benefit individuals with Skraban-Deardorff Syndrome. Our goal is to raise funds for research, promote public awareness, and align scientists, patients, parents, clinicians, government agencies, pharmaceutical companies and other organizations dedicated to treating people with Skraban-Deardorff Syndrome and related diseases.

 

 

Medical Background

 

Every cell in the human body has 23 pairs of chromosomes in its nucleus. Each chromosome contains thousands of genes, which are the basic units of heredity. Every gene has two copies. In patients with Skraban-Deardorff Syndrome, as a result of a genetic change, only one copy of the WDR26 gene works properly. Although the WDR26* gene was identified in 2004, there is still very little understanding of how it functions. Its role in the human body, other than being altered in Skraban-Deardorff Syndrome, is still essentially unknown.

We do recognize that nearly all problematic changes in this gene are not inherited from family members, but occur newly in the egg or sperm that come together to make the embryo. The syndrome affects individuals of all genders equally and across all backgrounds. To date, roughly 150 cases of Skraban-Deardorff Syndrome have been diagnosed worldwide, in patients ranging from infancy to more than 50 years of age.

 

Where We Are Today

We are working to promote research to better understand the role of the WDR26 gene so that treatments can be developed for patients with Skraban-Deardorff Syndrome. One possible way to help those with Skraban-Deardorff Syndrome may be to enhance the level of the normal copy of the WDR26 gene that is functioning properly.  However, much work needs to be done to see if this is even possible and to develop additional potential strategies.

 

Rigorous scientific research has made huge differences in the lives of millions of people living with rare genetic disorders. We are committed and determined to support this research, but are in our early efforts to increase awareness and raise funds in order to move this frontier forward.  We know that the kind of research necessary to make an impact runs easily into hundreds of thousands of dollars.

 

Please come with us on our journey to make a difference.  Will you make a gift to help fund the important research that is necessary to help these beautiful children and adults?

In July 2022, Children’s Hospital of Philadelphia hosted the third bi-annual Skraban-Deardorff Syndrome Family Meeting. Families joined from all over the world to meet, engage, and share information. Doctors and clinicians were available for questions and consultations and provided scientific and clinical updates from researchers. We will continue to develop events like this to expand our network and enable groundbreaking research for the benefit of our family members and for children worldwide.

 

 

Ways to Give

 

The Skraban-Deardorff Syndrome Foundation has been approved as a non-profit corporation by the Pennsylvania Department of State as of July 1, 2022 and has been recognized as a 501 (c) (3) tax-exempt organization by the IRS.

You can make your generous, tax-deductible contribution in support of the Skraban-Deardorff Syndrome Foundation either by Venmo, PayPal, Square, or by mailing a check to the address below. For instructions on how to wire your contribution from your financial institution, or to make a gift of securities, please email info@skdeas.org

Our goal is to better understand the role of the WDR26 gene, and to understand and improve the quality of life of those struggling with Skraban-Deardorff Syndrome. Upon receipt of your gift, an acknowledgement letter will be emailed to you, and you will have the satisfaction of knowing that you’ve supported critical, groundbreaking research for the benefit of some of our most vulnerable yet delightful citizens: individuals with Skraban-Deardorff Syndrome.

 

Thank you!

 

Skraban-Deardorff Syndrome Foundation

14039 Hwy 74 E

Suite A6 #123

Indian Trail, NC 28079

 

*The WDR26 gene name is shorthand for the 26th protein identified that contains a distinct pattern of Tryptophan (an amino acid that is a building block for proteins whose symbol is W) and Aspartic Acid (another amino acid whose symbol is D), in a Repeating unit.  The protein is called "Tryptophan-Aspartic acid Repeat protein 26" or WDR26.

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Board of Trustees

Lisa L. Patterson, President

Kyle Hillman, Vice-President

Demmie Deardorff, Treasurer

Katie Grand, MS, CGC, Secretary

Dr. Matt Deardorff, Member At-Large

Cynthia Lang, Member At-Large

Cara Skraban, MD, Member At-Large 

 

Operating Board

Tomas Anker, Member At-Large

Francis DelRossi, Events Committee Chair

Emily Gerst, Family Engagement Committee Chair

Kyle Hillman, Nominating Committee Chair

Andrew Houser & Emily Gerst, Birthday Club Committee

Cynthia Lang, Marketing/PR Committee Chair

Lisa L. Patterson, Fundraising Committee Chair

Andre Rodriguez, Information Technology Committee Chair

Maja Rodriguez, Community Outreach Committee Chair

Bailey Wallace, Member At-Large

 

skdeas.org website design by Jason Grand

"Adorable Children" video production by Tomas, Rudi and Ana Luisa Anker

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