DESSH Foundation's Impact in 2025

The DESSH Foundation has been actively advancing its mission since its founding in 2019—championing research, building community, and advocating for individuals and families affected by DeSanto–Shinawi syndrome (DESSH).

As a patient advocacy organization, our work is grounded in three core priorities: accelerating responsible research, strengthening connections across our global community, and increasing awareness and understanding of this ultra-rare genetic condition.

DeSanto–Shinawi syndrome is caused by pathogenic variants in the WAC gene and currently has no approved treatment—making continued research and collaboration critical.

In 2025, we reached several pivotal milestones, including expanding our patient database, advancing a natural history study, and funding research grants to support deeper gene characterization efforts.

2025 at a Glance

Building Community & Support

In 2025, the Foundation focused on connection, education, and trust:

• 3 community calls for shared learning and updates

• 2 virtual events, including the Rare Art Show for Rare Disease Day and the Dash 4 DESSH 5K

• 44 patients seen at multi-disciplinary clinic in collaboration with Washington University, St. Louis Children’s Hospital, and the IDDRC

• Family conference dedicated to education and connection

• Continued partnership with Parent to Parent USA to strengthen peer support

Research & Strategic Investment

In 2025, the DESSH Foundation made targeted, high-leverage investments designed to advance the field of DeSanto–Shinawi syndrome research and position the community for future clinical investigation.

• $79,000 invested in research initiatives supporting foundational science and clinical readiness

• Advanced disease modeling through an iPSC cell line project with the Gabel Lab and Kroll Lab

• Continued support of a Natural History Study at Washington University, led by Dr. Shinawi, to define meaningful clinical outcomes

• Maintained ongoing guidance from the Foundation’s Medical Advisory Board (7 members across academia, clinical care, and industry)

• Supported a multidisciplinary DESSH clinic in collaboration with Washington University, St. Louis Children’s Hospital, and the IDDRC, strengthening clinical insight and care coordination

Together, these investments move the field from isolated observations toward trial readiness and translational research.

Lean Operations, Maximum Impact

• $106,000 raised in 2025

• $79,000 directed to research

• $27,000 total operational costs

  • $14,400 supporting one part-time staff position

  • $12,600 covering all remaining administrative expenses

This structure allows the Foundation to remain scientifically credible, operationally lean, and mission-focused.

Our Broader Network

The DESSH Foundation is an active member of

• Rare Epilepsy Network (REN)

• NORD

• COMBINED Brain

• Global Genes

• Rare-X

These partnerships help ensure DESSH is represented within the broader rare disease ecosystem.

Looking Ahead

In the coming year, the Foundation will continue to:

• Support families with clear, transparent communication

• Advance ethical, patient-centered research pathways

• Strengthen collaboration with clinicians, researchers, and aligned organizations

  
  

With Gratitude

Our progress is made possible by families, donors, researchers, and advocates who believe in thoughtful, responsible advancement. Thank you for standing with the DESSH community.

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