Understanding the Genomic Basis of Human Disease
Research type
Research Study
Full title
Exploration of the genetic basis of familial or rare human disease with an unknown molecualr basis using genomic technologies
IRAS ID
159499
Contact name
Hannah Titheradge
Contact email
Sponsor organisation
Birmingham Women and Children's Hospital NHS Trust
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
Using advanced genomic technologies, selected groups of patients identified through the West Midlands Regional Genetics Service (WMRGS) will have their DNA or RNA analysed in order to detect possible disease causing gene alterations responsible for their condition. Patients will be selected on the basis of a disease diagnosis suggestive of a genetic cause. This will be due to the presence of an extensive family history of that disease or early onset of certain rare conditions with a likely genetic aetiology. In all cases, where available, genetic testing options will have been undertaken as part of the patient's clinical referral but will not have led to an explanation for the disease. Through this study, novel disease causing gene alterations have the potential to be identified, providing patients and their family members with an explanation for the cause of their disease as well as the ability to make informed decisions about their treatment, surveillance and reproductive options.
REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
15/WM/0076
Date of REC Opinion
20 Apr 2015
REC opinion
Further Information Favourable Opinion