Accelerate research towards treatments and therapies for DESSH

Our Mission Impact

Empowering families via information, knowledge and connectivity across the globe

How will your donations help? At the DESSH Foundation, we are committed to creating a better world for those directly affected by DeSanto-Shinawi Syndrome. We remain focused on accelerating research to treat and one day cure DESSH syndrome, caused by mutations in the WAC gene. Specifically, we wish to understand how an altered WAC gene causes the signs and symptoms. These studies will lay the groundwork for future research that will be aimed at intervention. Intervention involves the development of tools to assist in early diagnosis as well as therapies (pharmacological and non-pharmacological) that will attempt to mitigate one or more aspect of DESSH syndrome. We will use this information to arm medical professionals who are managing patients with DESSH syndrome around the globe.

The data learned from our research will help inform clinicians how to help patients manage facets of DESSH. Research currently taking place involves the use of animal models (for example mice and zebrafish) and eventually cell lines grown in flasks that are derived from patients’ actual tissues that have already been collected. In addition, through our DESSH clinics, we are building a database on the symptoms and life histories of patients for researchers to analyze. With more research, we hope one day to be able to provide a comprehensive plan of care and management recommendations that will ultimately maximize the developmental potential and happiness of individuals with DESSH syndrome.

Commonly Asked Questions

  • Registration for Dash4DESSH is $20USD. Every dollar donated goes directly to DESSH Foundation programs and services that fulfill our mission. We have no paid staff but have annual expenses such as maintaining the website and supporting the DESSH clinic. Your generous donation is tax deductible and will make a major difference in the lives of those affected by DeSanto-Shinawi Syndrome.

    There is a processing fee of $4 per signup. If a group signs up together, save by only paying one processing fee.

  • If you would like to donate without registering for the Run, go to https://www.dessh.org/donate

  • Please email any questions or concerns to info@dessh.org and someone will be in touch as soon as possible.

  • Please text “VOLUNTEER” to (973) 834-7101.