Spotlight on CNGG research at Cardiff University Research Showcase
7 December 2022
Researchers from the Centre for Neuropsychiatric Genetics and Genomics (CNGG) were recently featured in the prestigious digital showcase.
CNGG Director Professor James Walters, Dr Kimberley Kendall and Dr Antonio Pardiñas were invited to share their research into the genetics behind mental health conditions.
The showcase was opened by Cardiff University Vice-Chancellor Colin Riordan who commented: “A person’s mental health and wellbeing are influenced by a wide range of environmental factors, but also genetic risk factors. The charity Mind estimates that 1 in 4 people will experience a mental health problem of some kind each year.
“This is why understanding how our minds work and what we can do to help resolve these issues is a key area of research at Cardiff University.”
The Vice- Chancellor introduced CNGG Director Professor James Walters, whose key areas of research centre around the use of genetics to gain insight into psychosis and schizophrenia.
"A better understanding of how the brain works at a genetic level can help provide the foundation for new and future management and treatments,” Professor Walters began, and cited the complex advances in molecular genetics led by the CNGG and internationally under previous leadership of Cardiff University’s Professor Sir Michael Owen.
“Genomic discovery is a really key part of what we do at the centre,” he continued, and listed the aims of these gene discoveries:
- To improve on existing diagnoses and better target new treatments.
- To learn more about the underlying gene mechanisms and their impact on brain function.
- To find new and better drug targets.
As part of the showcase, Professor Walters introduced Research Fellow Dr Antonio Pardiñas to discuss opportunities for integrating genomics insights into the psychiatric standard of care.
“The mission over the last decade has been to quite literally paint the human genome and highlight the fractions and regions of it that contain genes or genetic variants and mutations that confer risk of developing schizophrenia.”
“The most interesting realisation is that each of us [in the world] carry mutations that confer risk of developing schizophrenia, with the majority carrying an intermediate risk.”
However, Dr Pardiñas noted that even when looking at those already diagnosed with schizophrenia that there may be slight differences in the symptomatology between high and low risk groups.
“Whether we can use these differences in symptomatology to do something clinically is a question that is very close to our core aim and mission, which is to improve the journey of anyone that goes through the mental health care system”.
Dr Pardiñas highlighted his research into pharmacogenomics and the use of anti-psychotic drug clozapine.
Dr Pardiñas was also featured on the National Centre for Mental Health (NCMH) Piece of Mind podcast where he discussed this area of treatment in relation to treatment-resistant schizophrenia (TRS), and how individual genetics can affect how the drug is metabolised.
Following on from this, psychiatrist and research fellow Dr Kimberley Kendall introduced her research into copy number variants (CNVs) in general adult psychiatry.
Dr Kendall highlighted previous research of CNV findings in schizophrenia, including work that was pioneered in Cardiff. She noted the discovery of non-specific CNVs, meaning “the same CNVs that will increase your risk of schizophrenia will also increase your risk of other neuro-developmental disorders.”
Using this to introduce her research that extends beyond the neuro-developmental stage, Dr Kendall showed that individuals who carry these CNVs also have an increased risk of depression and decreased cognitive functioning (compared to those without the CNV).
Dr Kendall discussed how this work is translated into clinical practise through the All-Wales Psychiatric Genomics Service, a collaboration between the National Centre for Mental Health (NCMH), the CNGG and the All-Wales Medical Genomics Service.
The All-Wales Psychiatric Genomics Service offers counselling to those with established genetic risk factors and as well as taking NHS referrals for those who may have a family history of psychiatric disorder or a genetic risk factor.
“To date, we have seen 13 patients across 1-3 appointments and [where appropriate] carried out genetic testing to reveal particular CNVs.
“The most important thing we have noticed is that patients value the opportunity to understand their story better. The CNVs on their own are not enough to cause an illness, but they are part of the picture, and that’s what people enjoy exploring and benefit from."
To highlight the importance of the work being done at the All-Wales Psychiatric Genomics Service, Dr Kendall provided an anonymised case study where an underlying variant was discovered, which provided an explanation for a list of problems the patient was experiencing.