10 February 2023 - - UK-based Adrestia Therapeutics, a specialist in synthetic rescue therapies for genetic diseases, has co-founded a research consortium to find new treatments for ataxia telangiectasia, 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.

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.

Ataxia telangiectasia 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.

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 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.

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.

Adrestia is in synthetic rescue therapies for genetically defined diseases. As many directly causative gene mutations are not druggable, synthetic rescue identifies drug targets in a much wider network of functionally connected genes.

The aim is to correct the effects of the causative mutations and 'rescue' health. Adrestia is creating a synthetic rescue 'Atlas' of the human genome and advancing a portfolio of first-in-class oligonucleotide or oral small molecule therapies, initially for neurologic, neuromuscular and cardiomyopathic diseases.

Adrestia's platform and in-house programs are complemented by a target discovery alliance with GSK and a Huntington's disease collaboration with noted researchers including Dr Sarah Tabrizi at University College London.

Adrestia was co-founded by Professor Steve Jackson and the deep technology investment fund Ahren Innovation Capital, which co-led Adrestia's series A financing along with GSK.

Jackson co-originated the first synthetic lethality drug, olaparib, which was the first drug approved to treat cancers caused by inherited mutations.