In 2019 we lost an incredibly important member of the CIUK Scientific Advisory Committee with the sudden and unexpected passing of Jacky Pallas at the age of just 54. Jacky was head of e-Research at King's College London and for the previous three years had been an active and vocal member of the CIUK SAC, helping to shape the direction our event has taken and pushing through many positive changes, whilst championing diversity and the inclusion of young researchers.
In her memory, and in recognition of her passion for our conference, we introduced an annual award that will highlight the work of an early career researcher and will allow the award winner a slot in the main programme at CIUK. Researchers will be nominated by their supervisors and we are looking for nominations for presentations that highlight the impact of a project that early career researchers have been working on.
CIUK 2022 Jacky Pallas Award Winner
Dr Djenifer B. Kappel (Centre for Neuropsychiatric Genetics and Genomics, Cardiff University)
"The genomic basis for precision medicine in treatment-resistant schizophrenia"
Abstract: Mental illness is currently the main worldwide driver of health problems and disability, and one of the main challenges in adequately addressing and treating mental illnesses is the fact that the most commonly prescribed drugs are not equally effective for everyone. Genetic differences between individuals are known to contribute to how one responds to pharmacological treatment, but few guidelines in implementing this knowledge exist. My research seeks to explore how to use genomic information to make psychiatric treatments, particularly antipsychotics, more beneficial for everyone who needs them. As part of Cardiff University's CLOZUK project, I have accessed genomic and clinical data from thousands of individuals with schizophrenia that take an antipsychotic called clozapine. Clozapine is particularly effective in treating this condition, however due to a range of potentially severe adverse effects, it is currently only employed when other treatments have failed and not everyone eligible gets access to it. To identify avenues for a safer and more efficient way to use clozapine, my work has leveraged clinical treatment records on over 4000 CLOZUK samples. Some insights from this dataset involve the discovery of genetic variants associated to clozapine metabolism, and the establishment of a metric of genetic predisposition to schizophrenia (a construct called a “polygenic risk score”) as a marker of individuals receiving higher doses of the drug than commonly prescribed. These results suggest that the genomics-aware healthcare of the near future might realise the personalisation of medication doses, a process which can currently take months and ultimately relies on trial-and-error procedures, even in conditions as complex as psychiatric disorders.
Speaker Bio: Dr. Djenifer Kappel is a Brazilian Early Career Researcher currently working as a Post-doctoral Research Associate at Cardiff University with Dr. Antonio Pardiñas. She initially graduated in Biomedical Science at Federal University of Rio Grande do Sul in Brazil, later obtaining a Master’s and a PhD in Human Genetics (2020) at the same institution. Over the last 10 years she’s been interested in the biological underpinnings of mental illness and the use of bioinformatics and statistical genetics in their discovery. Her current research is based on understanding how genetics can predispose us to psychiatric disorders and impact on their treatment and management.