The A-T Children’s Project is excited to be part of this A-T research initiative. Please see the following press release from Adrestia Therapeutics:

Adrestia Therapeutics Partners with Leading Patient Advocacy Groups to Form Ataxia Telangiectasia Research Consortium
February 8, 2023

  • Consortium to advance R&D towards disease modifying drugs for fatal neurodegenerative pediatric diseases driven by inability to repair DNA damage
  • A-T Children’s Project, AT Society and Action for A-T all committed to accelerating the discovery and clinical development of new treatment options
  • Adrestia to lead identification of ‘synthetic rescue’ targets and potential development of new drugs to correct underlying disease biology
  • Adrestia to apply its Synthetic Rescue Atlas to evaluate therapeutic potential of identified targets for common diseases driven by defects in DNA damage repair

CAMBRIDGE, UK. February 8, 2023. Adrestia Therapeutics, a leader in synthetic rescue therapies for genetic diseases, today announced it has co-founded a research consortium to find new treatments for ataxia telangiectasia (AT), a fatal, inherited, progressive neurodegenerative disorder that is typically diagnosed in young children. The consortium’s other founding members include the A-T Children’s Project, the AT Society and Action for AT. Adrestia is applying its synthetic rescue technology to systematically mine the human genome for novel targets which could be used as the basis for therapies for AT and related diseases. Currently, there are no corrective therapies for AT.

“The entire Adrestia team is moved by the dedication of the AT community and we are honored to be working closely with our consortium partners to combine patient networks, scientific and other resources to accelerate the development of new treatment options, for which there is a desperate need,” said Robert Johnson, Chief Executive Officer of Adrestia. “Many genetic diseases are untreatable with current technologies. The power of our synthetic rescue approach lies in its ability to reveal alternative therapeutic targets which lie outside the core biological pathway. Our ultimate goal is to develop effective medicines which rebalance the underlying biology, unlocking new ways of treating intractable genetic diseases. AT and several related conditions are caused by an inability to repair DNA damage normally. We believe the same synthetic rescue targets may be useful for a range of common diseases which also involve DNA damage repair defects.”

“AT has a devastating impact on families around the world and despite its severity and the clear understanding of its primary cause, we still cannot change the course of the disease. We welcome innovative approaches that can move us towards treatments or cures,” said Professor Penny Jeggo, noted DNA damage researcher and Trustee of the AT Society. Brad Margus, founder and Board chair of the A-T Children’s Project, added, “We are proud to begin this new initiative with Adrestia as we drive towards a brighter future for our community.”

“As a group deeply involved with advancing therapeutic research, we know collaboration and medical innovation are the path to a future where the effects of AT are minimised,” said Sean Kelly, Chief Executive of Action for AT. “We are proud to join this consortium and support a new line of promising research alongside other tireless advocacy groups.”

A wealth of human genetic data has revealed that a range of common chronic diseases are driven by defects in DNA damage repair, which are also the root cause of ataxia telangiectasia and other related inherited conditions. These common diseases span neurodegeneration, immune dysfunctions, cardiovascular disease, diabetes and metabolic diseases. Adrestia’s co-founding scientist, Professor Steve Jackson, is a noted expert in DNA damage repair biology whose work led to olaparib. Olaparib was the first approved cancer drug to exploit DNA damage repair mechanisms via a mechanism termed synthetic lethality, paving the way to applying complementary principles to discover new drugs for genetic diseases.

About ataxia telangiectasia

Ataxia telangiectasia (AT) is an inherited, fatal disorder primarily driven by mutations in the ATM gene, which is involved in DNA damage repair. Symptoms vary between individuals but typically involve degeneration across a range of neurological and neuromuscular functions, impaired metabolic and immune system function, among others. People with AT often require significant support and face a significantly reduced life expectancy. Historical estimates of how many people are affected by the disease vary, but recent data suggests the prevalence may be significantly underestimated, with at least 3,000 diagnosed patients in the USA.

About the AT Society

The AT Society exists to enable people with AT to make the most of the lives they have. They provide specialist emotional and practical support for children and their families affected by AT, and fund medical research to improve treatments and ultimately find a cure.  The AT Society is based in the United Kingdom and more information can be found at The AT Society is currently the subject of a BBC Lifeline appeal running in February 2023, with more information and opportunities to donate available at

About the A-T Children’s Project

The nonprofit A-T Children’s Project partners with academic and industry investigators worldwide – organizing and supporting innovative research, conferences, clinical teams, data platforms, and biomarkers – to optimize disease management strategies, develop new treatments and find a cure for ataxia-telangiectasia. For more information see

About Action for A-T

Action for A-T funds medical research to speed up the process of identifying a cure for Ataxia Telangiectasia or treatments that delay or prevent the disabling effects of this devastating childhood condition. Action for A-T provides a dedicated funding stream for medical research. Its sole focus is to raise funds for this purpose; as well as working to drive research and awareness of A-T. Over the last few years, Action for A-T has become the leading charitable funders of A-T medical research in the UK. For more information see



Robert Johnson


Tom Donovan
+ 44 7498 152764

Related News

Jul 24 @ 11:29 pm

Gene Therapy for A-T Conference Announced For This Fall

The A-TCP is hosting an international Gene Therapy for A-T conference in November.

Jul 24 @ 11:29 pm

Art of Nursing Award

A-T Clinic Nurse, Jenny Wright, RN is the recipient of the 2024 Art of Nursing award!

Jul 24 @ 11:29 pm

Shining a Light on A-T at the IlluminATion Ball

The A-TCP is hosting IlluminATion: A BioPharma Leadership Ball on May 11 in Boston to shine a light

Jul 24 @ 11:29 pm

NEAT Study – Phase 3 Clinical Trial of EryDex, a Low-Dose Steroid

Quince Therapeutics is advancing a phase 3 clinical trial to evaluate EryDex, a potential new treatment for ataxia-telangiectasia