GENROC: GENetic Rare disease Observational Cohort (Musketeers Study)
Research type
Research Study
Full title
The GENROC Study: Improving the treatment of people with GENetic Rare disease: an Observational Cohort study. (A Musketeers Memorandum Study)
IRAS ID
321040
Contact name
Karen Low
Contact email
Sponsor organisation
Research Governance Team, University of Bristol
Duration of Study in the UK
3 years, 11 months, 28 days
Research summary
2000 children per year are born in the UK with a rare genetic syndrome. These children have complex medical problems and require more appointments and hospital attendances than other children. These children often have developmental and learning difficulties and require extra support at school. Each syndrome will affect a small number of children and therefore research into individual syndromes is limited. We don’t have enough information about these syndromes, so we don’t know how these children grow and develop. Therefore doctors don’t know how to monitor children with genetic syndromes, or which investigations and treatment they need. This means parents have formed syndrome-specific social media support groups where they gather and share information.
This Musketeers Memorandum study aims to determine growth and development patterns, range of medical problems and long term medical and educational outcomes of children with rare genetic syndromes. It will discover if gaps in information can be filled in by working together with parents and social media groups to use information they are already gathering.
We will be recruiting 500 children with faults in a gene included in a specified list of developmental disorder genes. These children will be recruited from clinical genetics centres across the UK. The study will last 5 years. Information (height, weight, head circumference, birth weight, development progress and medical features) will be gathered from the doctors and parents of the participants. This will allow us to generate resources such as gene specific growth curves which can be used by paediatricians. We will talk to parents to understand how they use digital tools and social media to see whether we can build on this to improve clinical care. We will use information from parents to find out if machine learning can help us understand how genetic syndromes affect children.More information can be found here: What is GenROC? | Centre for Academic Child Health | University of Bristol
REC name
East Midlands - Nottingham 1 Research Ethics Committee
REC reference
22/EM/0274
Date of REC Opinion
15 Dec 2022
REC opinion
Favourable Opinion