The Rhonski study: genetic control of skin formation (v1.0)
Research type
Research Study
Full title
Examining Rho and Notch signalling in skin development and disease
IRAS ID
346150
Contact name
Laura Southgate
Contact email
Sponsor organisation
City St George's, University of London
Duration of Study in the UK
4 years, 11 months, 31 days
Research summary
Background: The skin provides a crucial protective layer between the human body and the outside world. Formation of the skin is a tightly controlled process. If disrupted, babies can be born with areas of missing skin, or abnormalities in the skin’s blood supply. Such birth defects are key features of the inherited disorder Adams-Oliver syndrome (AOS). Through our genetic studies, we have determined the ‘Rho’ and ‘Notch’ protein families are disrupted in AOS. However, it remains unclear how these two pathways co-operate to form the skin and its supporting blood vessels.
What are we trying to do? Using genetic and cell-based studies, we aim to examine the impact of Rho and Notch gene disruption and determine the factors controlling skin formation. Participants will initially be asked to provide a saliva sample for DNA extraction, which will be analysed to identify genetic variants that may be causing their birth defects. Selected participants may be re-contacted to request a blood sample or skin biopsy, to observe how genetic variants may be affecting the Rho and Notch proteins in skin tissue.
Who will be involved? Eligible participants include people with developmental skin disorders and their family members. People who previously consented to participate in our AOS genetics research study may also be invited. The research will be conducted by Dr Laura Southgate, Senior Lecturer in Genetics at City St George’s, University of London.
How will this research make a difference? There are currently no consensus guidelines for the management of AOS-related skin disorders. In severe cases, missing skin may be life-threatening and surgery often involves the use of skin grafts and/or tissue expanders, which can be distressing for young children. This project will identify new genes causing AOS and related skin disorders, supporting innovations in reconstructive and regenerative medicine and offering potential benefit through less invasive treatment options.
REC name
London - Riverside Research Ethics Committee
REC reference
24/LO/0819
Date of REC Opinion
27 Nov 2024
REC opinion
Further Information Favourable Opinion