Spliceosomal Disorders
Research type
Research Study
Full title
Understanding the role of U5 snRNP gene mutation in pre-messenger RNA splicing and craniofacial development
IRAS ID
206615
Contact name
William Newman
Contact email
Sponsor organisation
Central Manchester University Hospitals NHS Foundation Trust (CMFT)
Duration of Study in the UK
2 years, 2 months, 31 days
Research summary
This study is part of the Musketeers memorandum - a national agreement relating to rare disease projects, which prevents a full review of protocol and the need for individual negotiations by each NHS trust taking part in the said study. This means we will easily be able to roll the study out across other UK sites as a multi-centre study.
Gene splicing is a method by which our DNA is chopped up by proteins to remove introns and leave behind the coding DNA which provides the template for important proteins to be made.
Mis-regulation of splicing can be an important feature of many human diseases.
These disorders can be caused by changes in genes that interfere with splicing or by splicing not taking place in the first place.Given that these disorders are very rare, many behaviours and features of people affected by these conditions have not been identified and explained yet. We believe that this may have a big effect in managing the care of patients with such conditions.
As part of this study, we wish to:
- Describe the characteristics of groups of patients with isolated or syndromic ENT (Ear/ Nose/ Throat) anomalies
- Find out how common these changes are in people with isolated or syndromic ENT anomalies
- Identify new genes responsible for spliceosomal disorders and isolated ear/nose/throat anomalies
- Explain the scientific role of the proteins programmed by spliceosomal genesTo achieve these aims we will:
- Look for shared gene changes in consanguineous families
- Use various DNA sequencing techniques including - Sanger, targeted, whole exome or whole Genome sequencingREC name
North West - Greater Manchester East Research Ethics Committee
REC reference
16/NW/0892
Date of REC Opinion
3 Mar 2017
REC opinion
Further Information Favourable Opinion