Identifying Single Nucleotide Polymorphisms Associated with Clinical Features of FXS
Coventry University Pump-Prime
Dr. Lucy Wilde, Dr. Joe McCleery, and Professor Chris Oliver
Dr. Hayley Crawford: Research Associate, Centre for Research in Psychology, Behaviour and Achievement & Honorary Research Fellow, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham
Dr. Lucy Wilde: Research Fellow, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham
Dr. Joe McCleery: Associate Research Scientist, Center for Autism Research, Children’s Hospital of Philadelphia, USA
Professor Chris Oliver: Professor of Neurodevelopmental Disorders, Centre director of Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham
Mr Andrew Beggs, PhD: Clinical Lecturer in General Surgery and Geneticist
Fragile X syndrome is the most common cause of inherited intellectual disability, affecting approximately 1 in 2500-5000 males. A number of clinically significant behavioural features are associated with Fragile X including aggressive, impulsive and stereotyped behaviours, and autism symptomatology. However, there is large variability in the severity of these behaviours. We will bring together diverse research methods, including cutting edge genetic testing and existing detailed data from standardised measures of behavioural characteristics of individuals with genetic syndromes, to provide the first sufficiently powered examination of the relationship between genetic variation and behaviour in FXS.
Recent work conducted by Christou, Crawford (PI) and McCleery (CI; in review) has demonstrated a robust relationship between genetic variation and key socio-behavioural characteristics in typically developing (TD) children13. The proposed study builds upon this previous work by relating genetic variation to existing detailed data from the world’s largest database of standardised measures of behavioural characteristics of individuals with genetic syndromes, developed by Professor Chris Oliver.
This project will build on collaborative working relationships with researchers at the Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, and develop collaborative relationships with a genetics laboratory based at the University of Birmingham.
Results from this study will provide unique and generalisable, cutting edge insights into the genetic mechanisms that contribute to clinically significant variation in social, emotional, and behavioural regulation and development, and will advance understanding of the specific disorder studied in this instance.
This project will result in improved understanding of the relationship between genetic variation and behavioural characteristics in FXS, which can improve the health, wellbeing and quality of life of affected individuals and their families through identification of appropriate early intervention. This information will, in turn, further understanding of biological mechanisms affecting atypical development. The study of genotype-phenotype relationships within a specific genetic syndrome can be extended to other genetically defined neurodevelopmental disorders associated with intellectual and/or social disability.
For more information on genetic syndromes, visit http://www.findresources.co.uk.