Customer: Philomena Halford, Part-Time PhD Student and Research Technician, University of the Highlands and Islands (UHI)

Background

Schizophrenia is a debilitating neurological disorder that affects around 1% of the population worldwide. It is a highly heritable condition, with estimates of heritability ranging between 64% and 81%. Clinical symptoms are typically grouped into:

• Positive symptoms – hallucinations, delusions
• Negative symptoms – apathy, social withdrawal, reduced speech
• Cognitive impairments – difficulties with attention, concentration, and working memory

Despite extensive research, the underlying mechanisms remain complex and poorly understood.

Research Focus

At the Schizophrenia Research Group within the Genetics and Immunology Department at UHI, Philomena Halford is conducting a PhD project to better understand the role of Copy Number Variations (CNVs) in the development of schizophrenia.

The project uses human induced pluripotent stem cells (hiPSCs), derived from both healthy volunteers and patients with schizophrenia. These cells are differentiated into specific neuronal cell types to investigate:

• Phenotypic differences between schizophrenia-derived and control-derived neuronal cells
• Variations between schizophrenia-derived cells with different genetic backgrounds

Key Methods

Previous studies have shown that iPSC-derived neuronal cells from patients with schizophrenia can display alterations in both cell morphology and cellular function. Philomena’s project builds on this by examining:

• Neuronal migration patterns
• Metabolic changes
• Gene expression profiles

Using a range of laboratory assays and techniques, the research aims to shed new light on how genetic variation contributes to schizophrenia risk.

Impact

By investigating the cellular and molecular mechanisms of schizophrenia, this project has the potential to identify new therapeutic targets and improve our understanding of this complex disorder.

Philomena Halford, Part-Time PhD Student and Research Technician, using the Binder CO2 Incubator CB 170

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