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Rare Disease RNA Phenotyping Project (Neuroferritinopathy - a disorder in which iron gradually accumulates in the brain)
Safe People
Organisation name
University of Cambridge
Organisation ID
grid.5335.0
Applicant name(s)
Malwina Prater
Safe Projects
Project ID
DAA153
Lay summary
Neuroferritinopathy is an ultra-rare neurodegenerative disorder caused by mutations (faults) in a gene which codes for a protein called the ferritin light chain. Affected people have a build-up of iron in the brain. The build-up of iron eventually leads to the death of brain cells (called neurons and glia) and brain regions that help control movement are particularly affected. It is not clear how the excess iron is toxic to cells, and there is currently no treatment. RNA-sequencing looks at what genes are ‘read’ and expressed in different cell types; this can give an accurate overview of what is happening within the cells including the brain. Our aim is to use RNA sequencing to look at effect of the build-up of excess iron in cells. RNA-sequencing will help researchers have a better understanding of how the disease behaves and could help identify new treatments. The build-up of iron in neuroferritinopathy resembles normal brain iron build-up seen in healthy ageing, which also happens faster in common neurodegenerative disorders such as Parkinson’s disease. Our findings are therefore likely to have broader implications for common brain diseases linked to excess iron accumulation.
Request category type
Research
Other approval committees
NIHR BioResource Data Access Committee
Latest approval date
14/11/2022
Safe Data
Dataset(s) name
Data sensitivity level
De-Personalised
Legal basis for provision of data under Article 6
(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;
Lawful conditions for provision of data under Article 9
(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.
Common Law Duty of Confidentiality
The individual to whom the information relates has consented
National data opt-out applied?
No
Request frequency
One-off
Safe Setting
Access type
TRE