Participating Project

Project information

Identifying mechanisms to suppress A-T pathologies

There are currently no treatments for the rare neurological condition know as A-T. The Cambridge based research team hope that their planned studies will provide significant new insights into A-T and ATM biology, and might also identify potential drug targets for slowing A-T disease progression.

May 2017 - May 2019

Charity information: Action For A-T

Action For A-T logo
  • Need

    Need

    Ataxia-telangiectasia (A-T), caused by mutations in the ATM gene, is a disease associated with various pathologies, particularly progressive loss of certain nerve cells and defective DNA repair. Building on their recent progress, Professor Jackson and his Cambridge based research team aim to determine how changes in other genes might alleviate symptoms of A-T in cells, with the hope that these changes could also alleviate patient symptoms.

    Solution

    The proposed work could identify modifiers of A-T, therefore improving the ability of clinicians to counsel/advise patients and their families regarding their disease and its likely progression. It is also possible that the proposed work will identify opportunities for clinicians to advise on how progression of A-T might be slowed down by drugs or other agents.

  • Aims

    Aim 1

    To identify potential drug targets for slowing A-T disease progression

    Activities

    » The team will study cells derived from an existing A-T patient with mild symptoms to identify possible mutations that may alleviate the effects of A-T

    By publishing the results in a medical journal and sharing the results with other A-T researchers around the world.


  • Impact

    Impact

    The proposed work could identify modifiers of A-T, therefore improving the ability of clinicians to counsel/advise patients and their families regarding their disease and its likely progression. It is also possible that the proposed work will identify opportunities for clinicians to advise on how progression of A-T might be slowed down by drugs or other agents.

    Risk

    There are many risks that could impact the success of this project as A-T is an incredibly rare and relatively unexplored condition. The proposed work has the ability to be life changing for all A-T patients but as with all research, there are no guarantees of success. The project has been fully peer reviewed by a panel of experts to ensure that the proposed work is scientifically sound and Prof. Jackson and his team are highly regarded and have a proven track record for this type of research.

    Reporting

    The results of this and other studies are published in a medical journals and displayed on our website. All of our supporters and donors are sent links to these projects outcomes as well as impact reports explaining how their support has made a difference to the children living with A-T.

  • Budget

    Budget - Project Cost: £199,111

    Loading graph....
      Amount Heading Description
      £142,215 Direct Staff Costs The salaries of the research team carrying out the study
      £50,000 Consumables The equipment required to study the patient cells
      £5,396 Equipment To access core equipment within the research facility such as CRISPR-Cas9 gene editing euipment
      £1,500 Travel Costs To attend conferences and other A-T related meetings

    Current Funding / Pledges

    Source Amount
    A-T Children's Project, USA £99,555 Guaranteed
  • Background

    Location

    The project will take place at the highly respected Gurdon Institute at the University of Cambridge within Professor Jackson's research laboratory.

    Beneficiaries

    This research will benefit all of the children and families living with the devastating effects of A-T as there is currently no cure or therapy to alleviate the symptoms of this life shortening and debilitating childhood condition.

  • Why Us?

    Why Us?

    We are the leading funder of A-T research in the United Kingdom and the only charity to solely fund research into A-T. Since 2012, we have invested in 23 A-T related research projects globally and work closely with the best scientific minds to develop new research opportunities. We have our own highly qualified multi-disciplinary medical advisory and peer review panel and a grant management process which has led us to achieving a best practice award from the AMRC.

    Read more about the Charity running this project.

    People

    Professor Steve Jackson

    Professor Jackson is the principal investigator for the project.

    Dr Rimma Belotserkovskaya

    Dr Belotserkovskaya will provide clinical recruitment, iPSC derivation and bioinformatics support for this project.

We hope that the planned studies will provide significant new insights into A-T and ATM biology, and might also identify potential drug targets for slowing A-T disease progression.

Professor Steve Jackson, Gurdon Institute, University of Cambridge