Mental Health
Mental health
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that first appears in childhood, with prevalence rates between 1.4% and 3.0%.
ADHD occurs more frequently in boys than in girls, and has been found to often co-exist alongside other neurodevelopmental and psychiatric disorders. It has a strong genetic component, influenced by genes and environmental factors, where new research suggests that rare genetic variations (such as the 1q21.1 duplication) pose a serious risk for ADHD.
Despite this evidence, there is still a knowledge gap concerning the exact biological mechanisms by which these genetic variations affect the chances of developing ADHD. Dr Yasir Ahmed Syed at Cardiff University is working to uncover the biological foundations of neurodevelopment psychiatric disorders, like ADHD, schizophrenia, and autism spectrum disorders (ASD). He is particularly interested in exploring genetic risk factors such as 1q21.1 chromosomal duplication, to see how they contribute to the increased risk of these disorders.
To achieve this, Dr Syed will use patient-derived pluripotent stem cells. These are cells that have been reprogrammed to an embryonic-like state, so they can differentiate into any cell type in the body. The team has created stem cells from individuals with this particular rare genetic variation who exhibit ADHD symptoms or clinical features. They are using various cellular, molecular and genomic techniques to explore the biological mechanisms that underpin neurodevelopmental psychiatric disorders.
Through his research, Dr Syed has identified mechanisms that could enhance regeneration of the central nervous system. He has developed the first stem cell model for the 1q21.1 gene variation and uncovered the neural pathways involved. This breakthrough has opened up new possibilities for drug targets that could reduce functional deficits in neurons, thus paving the way for exploring neurodevelopmental psychiatric disorders.
As well as this, Dr Syed is investigating other high risk copy number variants - i.e. gene variations that can increase the risk of developing these disorders. He is developing new in vitro methods, such as brain region-specific organoids (miniature human brains grown in a lab to study brain disorders). Overall, his work aims to establish a new research paradigm that addresses the effects of copy number variations on brain development, by combining stem cell-based disease modelling with next-generation genomic analyses.