The Cardiff Undergraduate Research Opportunities Programme (CUROP) provides summer placements for Cardiff University undergraduates in the University research environment. CUROP offers a stipend to support a student on a placement of up to eight weeks duration, working with supervision on staff-defined research projects. It is considered to be one of the largest undergraduate research schemes in the UK.
In this blog we hear from Chloe Sheldon who undertook a CUROP project within the MRC Centre for Neuropsychiatric Genetics and Genomics and Dr Samuel Chawner, her CUROP supervisor.
I am a Neuroscience student starting my fourth year of university, interested in mental health and genetics research. I was lucky enough to be offered an opportunity to undertake my very own research project over the summer with funding through CUROP. I saw this as a perfect chance to think about whether I would like to pursue a research career after University.
The ECHO study, Experiences of CHildren with cOpy number variants study, led by Professor Marianne van den Bree, investigates the symptoms of children with 22q11.2 Deletion Syndrome (22q11.2 DS). This syndrome is caused by a genetic deletion on the long arm of chromosome 22 in the 11.2 region. 22q11.2 DS is the most common microdeletion syndrome and has a prevalence of around one in 4,000 live births.
These individuals can show a wide range of symptoms and are at a high risk of numerous mental health disorders including ADHD, anxiety and schizophrenia. The severity of the symptoms varies with some individuals having mild features whereas it can be life-threatening in others. As a result of the wide range and severity of the symptoms, I wanted to investigate whether the range is as a result of the deletion size of individuals with 22q11.2 DS. 22q11.2 DS can either represent itself as a larger 3 million base pair (Mb) deletion, or a smaller 1.5 Mb deletion. Around 90% of individuals with 22q11.2 DS show the 3 Mb deletion whereas the remaining 10% show the 1.5 Mb deletion.
Before I started my project I hypothesised that individuals with the larger deletion would show more severe symptoms than those with the smaller deletion.
To collect data, we visited the homes of children with 22q11.2 DS. While a researcher completed a psychiatric interview with one or both parents/carers, I completed neurocognitive tests with the child, where we more often than not ended up either colouring in pictures or playing computer games! Afterwards, we collected a biological sample (blood/saliva) for genotyping.
The results of my study were very similar to what had been presented in previous literature (Carlson et al, 1997; Weksberg et al, 2007). Concerning cognition and psychiatry there were little to no differences between those with the smaller 1.5 Mb deletion and those with the larger 3 Mb deletion. Perhaps indicating that it is genes within the 1.5Mb deletion that drive the psychiatric phenotype of 22q11.2 DS. However, the sample size and the statistical power for my analysis was low. My project can act as a pilot study for potential future studies that may have a longer period of time to recruit participants.
My interests in mental health and research involving it has definitely increased over the past year and I do feel that the CUROP project is vital for undergraduates who are curious and want to find out more about what research is like.
It has been a pleasure to work with Chloe over the summer. CUROP is a great scheme that connects researchers in the university to motivated undergraduates keen to experience research.
I am a Research Associate within the MRC Centre for Neuropsychiatric Genetics & Genomics. My research focuses on the development of children at genomic risk for psychiatric disorder. I conducted my PhD on 22q11.2 DS, so it was great to have an opportunity to pass on my knowledge to a new student. 22q11.2 DS does not have much public awareness yet it is one of the most common genetic syndromes after Downs Syndrome. I think it is important that students learn about 22q11.2 DS early in their biomedical research careers. 22q11.2 DS is also one of the strongest known risk factors for schizophrenia development. Research in this area offers a rare opportunity to understand the aetiology underlying schizophrenia development.
The team is always keen to hear from motivated students who want to experience research. Please contact Samuel for more information.