We are pleased to share that the funding announced this fall has been awarded to researcher Xizhen Lian at Johns Hopkins University for the project, “In Vivo, Non-Viral Base Editing to Correct AT Variants in Brain, Blood, Lung and Liver.”

Summary of the project:

Ataxia telangiectasia (A-T) is a multi-organ disorder caused by recessive mutations in the ATM gene, which encodes a master regulator of the DNA damage response and impacts redox balance, angiogenesis, and glucose metabolism. This project will explore a base editing strategy to correct a pathogenic ATM mutation to initiate the Principal Investigators’ (PI) efforts towards precision gene therapy for treating A-T. Specifically, the PIs have access to ATM patient cells harboring the R2598X mutation, and this variant is amenable to base correction. Employing lipid nanoparticles, the most clinically advanced nonviral gene delivery technology, the PIs will demonstrate in vivo base editor delivery into hematopoietic stem cells, lung and liver to potentially alleviate A-T-related morbidity and mortality. Overall, results obtained with the support of this project will set the stage for future A-T gene therapy studies including the optimization of prime editing strategies to correct ATM and expanding delivery to the central nervous system.


On September 4, the A-T Children’s Project sent the below email to A-T researchers about available funds for a grant to test gene editing technologies to restore ATM protein function in cells from children with ataxia-telangiectasia.

Dear A-T Researchers,

We wanted to let you know of a funding opportunity through a partnership between the University of Pennsylvania’s Orphan Disease Center and the A-T Children’s Project.

One grant for $41,740 is available to support the testing of gene editing technologies such as base and prime editing, or dual-vector approaches that deliver large genes, to restore ATM protein function in cells from children with ataxia-telangiectasia.

The application deadline for Letters of Interest (LOI) is September 20, 2024. You can find the application on the Penn website. The RFA is at the same link (just scroll down to find A-T) and also at the bottom of this email.

Penn website: https://www.orphandiseasecenter.med.upenn.edu/grants/event-five-pk3yg-b7zlm-m4ag9-e5ysf-xywgg-mrtjk

Please feel free to share this information with respected colleagues who may bring innovative approaches to this scientific question. Thank you for your work which gives hope to all families coping with A-T!

All the best,

Jennifer

Jennifer Thornton, Executive Director


RFA for A-T:
Ataxia-Telangiectasia (A-T): Team Derek’s Dreams and the A-T Children’s Project have provided a $41,740 grant to support the testing of gene editing technologies such as base and prime editing, or dual-vector approaches that deliver large genes, to restore ATM protein function in cells from children with ataxia-telangiectasia. The tested methodologies must have a clear path by which promising results can subsequently be advanced into preclinical and clinical development.

If you are an A-T or ATM researcher and would like to be added to our mailing list, please email us at info@atcp.org. Thank you!

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