Dental health in rare genetic conditions v1.0
Research type
Research Study
Full title
An outpatient study of dental health in children with rare genetic conditions
IRAS ID
347722
Contact name
Alisdair McNeill
Contact email
Sponsor organisation
the University of Sheffield
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
In this project, we will characterise the dental health of children with recently discovered genetic causes of intellectual disability (ID). Large scale genomic sequencing projects, such as Deciphering Developmental Disorders (DDD), SOLVE-RD and the 100 000 genomes project, have identified dozens of novel genetic causes of ID. Very little is known about the symptoms and health effects of these. There is an urgent clinical need to define the dental manifestations of these new genetic causes of ID. The proposed research will use a calibrated dental examination to define dental manifestations in children affected by the top 10 genomic conditions diagnosed in large scale UK genome sequencing projects. This will identify the prevalence of dental malformations in these individuals and also characterise general dental health. This will inform the clinical practice of Paediatricians and Paediatric dental teams.
REC name
North West - Haydock Research Ethics Committee
REC reference
24/NW/0344
Date of REC Opinion
4 Nov 2024
REC opinion
Favourable Opinion