Bookmarks
Primary Immunodeficiency: mechanism and diagnosis via integrative clinical immunogenomics
Safe People
University of Cambridge, UCL
Ken Smith
Safe Projects
DAA148
Primary immunodeficiencies (PID) are a group of rare disorders affecting at least 1 in 350 people in the UK. PID include a range of genetic diseases that can mean people are at higher risk of getting life threatening infections, autoimmune diseases and some cancers. The large number of different PID symptoms and differences in how bad they can be makes it difficult for patients to be diagnosed and get the right treatment and care. Recently, we showed that combining clinical and genetic information from 800 PID patients revealed new genetic causes of their conditions and helped diagnosis. The INTREPID project will extend this method by collecting more detailed genetic, clinical and molecular measurements from a bigger group of 2,000 PID patients, and using that information to find out what changes are responsible for specific forms of PID. This will give a genetic diagnosis to more patients and improve our understanding of the human immune system.
Research
NIHR BioResource Data Access Committee
26/09/2022
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
Release