Exome Sequencing to Determine Causative Genes in Knee Joint Dysplasia
Research type
Research Study
Full title
Use of Whole Exome Sequencing to Determine Causative Genes in a Single Pedigree with Femoral Trochlear Dysplasia.
IRAS ID
165628
Contact name
Karen Shepherd
Contact email
Sponsor organisation
Norfolk and Norwich University Hospitals NHS Foundation Trust
Duration of Study in the UK
0 years, 3 months, 0 days
Research summary
The underlying cause of dysplastic (abnormally structured) joints remains poorly understood. Previous studies have shown a strong pattern of inheritance of joint dysplasia, suggesting a genetic component to its aetiology. Exome sequencing is a new method for identifying causative genes of rare inherited conditions that involves sequencing all of the protein coding DNA of an individual and identifying abnormal genes by reference to known databases. We have identified a family demonstrating a clear pattern of inheritance of knee joint dysplasia and aim to use Exome sequencing in addition to traditional sequencing methods to identify novel causative genes. Identification of genes associated with joint dysplasia could lead to earlier diagnosis and therefore more successful interventions.
REC name
East of England - Essex Research Ethics Committee
REC reference
15/EE/0009
Date of REC Opinion
24 Feb 2015
REC opinion
Further Information Favourable Opinion