The Wiedemann-Steiner Syndrome

Grant Program 2025

The Wiedemann-Steiner Syndrome Foundation will provide 2-year grants to support research related to Wiedemann-Steiner Syndrome. At least 3 awards will be granted.

Background

Wiedemann-Steiner Syndrome (WSS) is a rare genetic disorder resulting from mutations in the MLL gene (also known as KMT2A) on the long arm of chromosome 11. The syndrome’s genetic underpinnings were clarified in 2012 by a group of researchers led by Dr. Wendy Jones. The gene encodes a histone methyl transferase which helps modify the expression of many other genes. The condition is autosomal dominant, and in most cases, the mutation occurred de novo. From an unpublished survey of 76 WSS families, the symptom determined to be of “Very High Impact” by most families, was disruptive behaviors. This included aggressive behaviors, impulsivity, and behaviors outside of age-appropriate societal norms and the most important therapeutic goals were to reduce these behaviors and improve cognitive functioning.

The Orphan Disease Center, in collaboration with the WSS Foundation, is seeking grant applications that aim to further progress the understanding of the disease:

• Two $90,000 grants to support the development and characterization, for the advancement toward therapeutic goal, of patient-derived cell models of WSS Syndrome (ex. iPSCs, neurons, reporter lines). These cells model will be deposited into a publicly accessible biobank.

• One $90,000 grant to support a Natural History Study. Proposals for this grant should focus on understanding the progression of the condition over time, often to support product development, especially for rare diseases. These studies are observational and aim to identify factors that influence disease development and outcomes.

Eligibility

All individuals holding a faculty-level appointment at an academic institution or a senior position at a non-profit institution or foundation are eligible to respond to this RFA.

Full Applications are due Friday, September 26, 2025 by 8pm ET.

To Apply:

1. Please review the WIEDEMANN-STEINER SYNDROME FOUNDATION 2025 GRANT PROGRAM RFA Guidelines.

2. Download and complete the below forms

   1. Full Application Template

   2. Research Budget Template

3. Complete the Application Form on Submittable.

For any scientific inquiries regarding this grant please email Debbie Requesens

For any administrative inquiries regarding this grant please email psom-odcadmin@pobox.upenn.edu