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YWHAG 2024 Roadmap

This year, we are poised to leap into a future where our concerted efforts and commitment to networking, research, collaboration, and innovation set new standards in understanding and addressing the YWHAG mutation. Our roadmap for 2024 is more than a plan; it is a manifesto of our dedication to create meaningful strides in medical research, patient support, and community engagement. We envision a year where every discovery brings us one step closer to solutions and every collaborative effort is a testament to our collective resolve. 


In 2024, we are not just charting a path; we are paving the way for a brighter, healthier future for all those affected by the YWHAG mutation…


Patient/Family Goals for The YWHAG Research Foundation:


· Hold quarterly meetings with our Member-Families, Facebook Family and include guest speakers.

· Create an informational brochure/packet for new Member-Families

· Encouragement of families to sign up for the patient registry (Link:

· Remind our Member-Families of the opportunity to share their story here on our dedicated webpage

· Ongoing fundraising efforts and grant applications for Gene therapy project with Fink Labs




· Pennsylvania University partnership with the Orphan Disease Center

· Working with a Marketing/Social Media specialist from St. Jude’s Research Hospital in Memphis, TN to spread awareness and advocate.  

· Establishing a Research Advisory Board of clinicians and researchers with diverse expertise and perspectives working towards advancing research of diseases associated with YWHAG mutations and 14-3-3 gamma protein.


Scientific Goals:

  1. Characterize YWHAG mutant knockin mouse model generated by Jax Labs

  • In a first of its kind, a mouse model will be created with the YWHAG genetic mutation containing the human variant of interest c.394C>T, p.Arg132Cys. Our foundation was successful in their nomination to the JAX Rare Disease Translational Center. The primary goal of this grant funding is to establish human disease models in the mouse where none exist and to advance therapeutics by matching as closely as possible disease characteristics in the mice with those of afflicted patients. This strain will also contain a short stretch of flanking human DNA sequence to facilitate any future therapeutic strategy that might be considered that requires human sequences in the mouse.  

  • Once generated, this newly created mouse model will be made available to collaborators prior to validation and up to six months prior to public availability with an accompanying Material Transfer Agreement. Once molecularly validated, the mouse model will be submitted to the Mutant Mouse Regional Resource Center (MMRRC) at JAX and will be available for distribution to any researcher for further study. 

2. Determination of 14-3-3 gamma binding partners affected by YWHAG disease-associated mutations.

3. Establish functional assays related to affected binding partners to determine if therapeutics can restore function.


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