Use of NGS technologies for resolving clinical phenotypes
Research type
Research Study
Full title
Use of NGS technologies for resolving clinical phenotypes
IRAS ID
212945
Contact name
Sarah Ennis
Contact email
Sponsor organisation
University Hospital Southamtpon NHS Foundation Trust
Duration of Study in the UK
4 years, 11 months, 28 days
Research summary
Genetic mutations are a significant cause of disease, with over 20,000 described conditions having a known or suspected genetic cause (www.omim.org). Disease caused (or contributed to) by mutations in patients are a significant health burden worldwide.
Next generation sequencing (NGS) has been a transformative technology in medical genetics, allowing for the rapid, cost-effective sequencing of the human genome, allowing us to increase the rate is disease gene identification greatly in recent years. NGS is also increasingly used for clinical diagnostic testing, and in projects such as the 100,000 Genomes Project.
Diagnostic NGS data also provides a rich resource for research, allowing us to move beyond the limited scope of data interrogation that is required for diagnostics. This allows us to look for patterns in the data across multiple patients to identify new causes of disease.
As well as identifying new causes of disease, we will also look at patients that may have unusual symptoms, and refine our understanding of known diseases. We will also try to work out if we can give any better treatments to patients based upon what mutations they have, and where there may be an unmet need for drugs to treat certain diseases.
We are keen to also to develop new tools and methods to allow others to undertake this sort of research. We also aim to understand what normal patterns of genetic variation outside of those causing disease. This would help us to identify disease-causing mutations, by helping us to spot the ‘odd ones out’.
Overall this work should ultimately help us improve the number and accuracy of diagnoses for genetic diseases, and develop better treatments, targeting them best to the patients that need them.REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
17/YH/0069
Date of REC Opinion
12 May 2017
REC opinion
Further Information Favourable Opinion