RNA phenotyping in Ataxia telangiectasia

Summary

Ataxia telangiectasia (AT) is a rare inherited disorder that affects the nervous system and is caused by mutations in the ataxia telangiectasia mutated (ATM) gene. It affects the movements of the eyes and limbs and causes gradual damage to nerve cells in the brain in children and adults.

ATM is important in repairing damaged DNA and consequently, patients with AT often also develop cancer and problems with their immune systems. Current obstacles to evaluate novel treatments include the lack of validated outcomes and progression biomarkers and a suitable disease model to assess therapeutic targets. Individuals with AT are seen by a doctor in the UK National AT Service every 1-2 years, when they have a detailed assessment of their nerves, their immune system and their respiratory system.

An NIHR Bioresource recruiting patients into the Rare Diseases Ataxia Teleangiectasia (ATG) cohort has recently been launched, and a Natural History Study for a sub-group of AT patients is also in set-up. RNA-sequencing is a powerful tool which looks at the different genes that are being ‘read’ and expressed in different cells.

We will explore common pathways across neurodegeneration, immunity and cancer, which we hope will lead to the development of clinical trials and new treatments.

This study is part of our Rare Diseases RNA Phenotyping Project. Each participating study in the project is included in a collection hosted on our main studies page.