Bookmarks
Rare Disease RNA Phenotyping Project (Ataxia-telangiectasia - a rare inherited disorder leading to progressive difficulty coordinating movement)
Safe People
University of Cambridge
grid.5335.0
Malwina Prater
Safe Projects
DAA152
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 with AT 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.
Research
NIHR BioResource Data Access Committee
14/11/2022
Safe Data
De-Personalised
(e) processing is necessary for the performance of a task carried out in the public interest or in the exercise of official authority vested in the controller;
(j) processing is necessary for archiving purposes in the public interest, scientific or historical research purposes or statistical purposes in accordance with Article 89(1) based on Union or Member State law which shall be proportionate to the aim pursued, respect the essence of the right to data protection and provide for suitable and specific measures to safeguard the fundamental rights and the interests of the data subject.
The individual to whom the information relates has consented
No
One-off
Safe Setting
TRE