Meet the Researcher – Emma Weir

Emma Weir (Biosciences 2021-) is in the final year of her PhD at Cardiff’s Neuroscience and Mental Health Innovation Institute, looking into the mechanisms of neurodevelopmental disorders such as ADHD, autism, and schizophrenia. She tells us about her work, which aims to give patients more accurate diagnoses and better support sooner. 

My research looks at DNA changes that lead to abnormal brain development and increase risk towards neurodevelopmental disorders. We occasionally see big genetic changes in the DNA of a patient, where regions of chromosomes have either been deleted or duplicated. These changes are rare, but they can be a marker to show if someone might develop a neurodevelopmental condition and the likelihood of certain symptoms, such as cognitive impairment, being present. Someone with a mutation could be asymptomatic, or their condition could manifest at a severe level. They may also be unaware they have a genetic risk of developing a condition until they pass this on to their children. My role is to look at the biology behind these duplications and deletions and what this means for patients.  

Despite significant advancements, there is still so much we don’t know about the brain, as biopsies on this specific organ are difficult. So, in order to find out more about the link between DNA changes and neurodevelopmental conditions, our team use a special lab technique. By taking blood samples containing patients’ DNA, we can create stem cells to use in the lab. From these stem cells, we can actually grow brain cells and 3D models. These mini brain models – otherwise known as organoids – are essentially genetically identical copies of specific patients’ brains. 

These organoids are an incredible game changer for our research. They allow us to recreate the workings of the brain in lab conditions, so we can test theories and treatments that we wouldn’t be able to otherwise. For example, we can use organoids to investigate which types of drugs might work best to ease specific conditions. Our lab team looks at how different cells in the brain change and interact with one another. While I observe how neuron activity is impacted by myelin-making cells, for example, my fellow researchers look at other brain cell types.  

Together, our research is helping us to understand the brain in a new and improved way, meaning we can give patients more accurate diagnoses, personalised medical information, and the support they need at an earlier stage. Our collaborative multidisciplinary research is revolutionizing our understanding of the brain, enabling us to provide patients with more accurate diagnoses, personalized medical insights, and timely support at an earlier stage. 

Find out more about neuroscience and mental health research at Cardiff University.