Hope4Livi’s Research Goals

G947R AHC Research Roadmap:

Create a G947R AHC “worm model” (C. elegans), Project Initiated!

  • Dr. Anne Hart, Ph.D., Professor and Chair of Neuroscience at Brown University, & Diana Wall (Ph.D. trainee) https://www.thehartlab.org/

  • Create a gene edit in worms that is representative of the G947R AHC mutation – Underway

  • Characterize the G947R AHC worm model and compare this to the other AHC worm models (D801N, E815K, L839P)

  • Evaluate assays that may be useful for future drug, or genetic screens, using experiments conducted for the other AHC worm models

Budget: $16,259 - Funding Secured!

Estimated timeline: 8 – 12 months

  • This project will teach us more about how the G947R mutation affects a living organism (other animal models include mice, flies, frogs, etc.). Behavioral and functional endpoints have already been identified in the worms in a previous study. To learn more about this see Dr. Hart’s previous publication http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5148073

  • Efforts are already underway to explore other AHC patient mutations in the worm. This work will enable us to compare the G947R mutation to the other patient mutations, using the same model system.

  1. Create a G947R AHC “mouse model” – Project Initiated!...More details to follow on this in early 2025

    Estimated timeline: 12-18 months

  2. Evaluate the effect of a novel genetic medicine in the G947R mouse model under development. Fundraising needed!

    There have been several exciting therapeutic approaches evaluated in AHC mouse models very recently. Much of this work has been led by Hope For Annabel, For Henry, CureAHC, and AHCF. We currently don’t know which therapies will work best for each AHC mutation type and further studies will be needed.

    Estimated budget: $250,000 or more

    Estimated timeline: 12-18 months

  3. Encourage patient & family participation in registries and surveys to better understand AHC symptoms and severity

    Underway by AHC partners (Hope For Annabel and others)

  • Even though there are many therapies currently being explored, none of them can proceed into clinical trials without a better understanding of the disease in AHC patients.

  • As each of these therapies continues to make advancements the role of patients, and their involvement, in patient surveys and natural history studies becomes even more critical.

  • If you have a loved one affected by AHC please consider participating in any or all the below studies if you are eligible. The information that we learn from these efforts will make it is easier to conduct and run clinical trials as these promising therapies make progress.

Estimated timeline: Ongoing

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Research Opportunities

Current Research Opportunities

Create a G947R AHC “worm model” (C. elegans)

  • Dr. Anne Hart, Ph.D., Professor and Chair of Neuroscience at Brown University

  • Use CRISPR-Cas9 technology to create a gene edit in C. elegans that is representative of the G947R AHC mutation in patients

  • Characterize the G947R AHC worm model and compare this to the other AHC worm models already available (D801N, E815K, L839P)

  • Evaluate assays that may be useful for future drug or genetic screens and similar experiments being conducted for the other AHC mutation worm models (D801N, E815K, L839P)

Estimated budget: $15,500

Estimated timeline: 8-12 months

  • This project will teach us more about how the G947R mutation affects a living organism (other animal models include mice, flies, frogs, etc.). Behavioral and functional endpoints have already been identified in the worms https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5148073/

  • Efforts are already underway to explore other AHC patient mutations in the worm. This work will enable us to compare the G947R mutation to the other patient mutations, using the same model system.

Future Research Opportunities

1)      Expand access to the G947R mouse model

  • Developed at Northwestern University by making it more available to researchers focusing on AHC. We seek to make this model available through a contract-research-organization (CRO).

  • Learn more about the G947R AHC mouse model developed by Dr. Al George, M.D. at Northwestern University http://doi.org/10.1101/2024.08.18.608455

Estimated budget: TBD

2) Evaluate an AAV gene therapy approach in the G947R mouse model in collaboration with other AHC foundations.

  • We wish to conduct our studies in as similar a manner as possible to those conducted previously so that any learnings or outcomes observed within the G947R mouse model, or the other AHC mouse models, may be more easily compared.

Estimated budget: TBD