Transcriptomics analysis of Hirschsprung’s disease
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE96854 | GEO | 2017/03/22
SECONDARY ACCESSION(S): PRJNA379943
REPOSITORIES: GEO
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Project description:Background and study aims
There are numerous lifestyle-altering diseases in the UK for which patients undergo multiple invasive tests before they can be properly diagnosed. These tests are often uncomfortable and inconvenient for patients, in addition to being very costly for the National Health Service (NHS). They typically involve a degree of risk to patients (e.g. bleeding and bowel rupture during endoscopy, or harmful radiation exposure from CT scanning). Many of these tests also tend to have normal results, since only a small fraction of patients are eventually diagnosed with the disease being sought. The aim of this study is to analyse symptoms, risk factors and genetic changes detected in saliva samples to predict patients’ risk of developing diseases.
Who can participate?
Patients aged over 18 who are already known to have oesophageal or colorectal disease including Crohn's disease, and patients who are awaiting tests to diagnose or exclude these diseases.
What does the study involve?
Participants complete a questionnaire to obtain information regarding their symptoms and risk factors for the disease. Saliva and blood samples are collected and, when appropriate, blood and tissue samples are taken during any investigations that they are already scheduled to undergo as part of their treatment process. No additional procedures or interventions are performed on these patients, and their clinical treatment is not affected in any way. Genetic analysis is performed on these samples to see if the characteristics of the patients’ saliva in combination with symptoms and other risk factors can accurately predict their disease. The saliva test results are compared with the blood and, where possible, tissue test results.
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