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At the YWHAG Research Foundation, we are dedicated to advancing the understanding and treatment of conditions associated with YWHAG gene mutations. Our research assets are crucial resources that empower scientists and clinicians in their investigative and therapeutic endeavors. Below, you'll find detailed information about our key assets:
Induced Pluripotent Stem Cells (iPSCs)
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We offer iPSC lines with a CRISPR engineered knock in of the c.394C>T, p.Arg132Cys mutation as well as healthy controls. These pluripotent cells are invaluable for modeling diseases, understanding cellular mechanisms, and developing potential therapies.
The iPSC’s are available through Transcripta Bio.
Mouse Model
In collaboration with the JAX Rare Disease Translational Center a mouse model is in development. The mouse strain will contain the human variant of interest, c.394C>T, p.Arg132Cys, along with a short stretch of surrounding human DNA sequences. This inclusion is designed to facilitate future therapeutic strategies that may require human sequences within the mouse model.
The main goal is to develop human disease models in mice where none currently exist, aiming to advance therapeutic options by closely matching the disease characteristics in the mice with those of affected patients.
Bio Repository
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In collaboration with CombinedBrain and Simons Searchligh we have established a centralized collection of biological samples from individuals affected by YWHAG mutations. This repository serves as a vital resource for researchers aiming to explore the genetic and molecular underpinnings of related disorders.
Access and Collaboration: Researchers interested in utilizing our Bio Repository can submit a formal request outlining their research objectives. We encourage collaborative projects that align with our mission to improve patient outcomes.