Schizophrenia disorder is a severe and poorly understood mental illness affecting about 1% of the population worldwide. The Swiss psychiatrist, Eugen Bleuler, coined the term schizophrenia (meaning ‘split mind’) in 1911. Despite a high level of heritability, exome sequencing has uncovered only a small percentage of disease-causing protein-coding alterations associated with the aetiology of schizophrenia, which suggests that alternative, presumably gene regulatory, mechanisms may play a major role.
Schizophrenia has historically been investigated using post-mortem tissue and from a drug-induced approach as mouse models incorporating all aspects of the disease have been difficult to establish. Recently, induced pluripotent stem cells have been derived from patients affected with schizophrenia and neurons generated from these cells have begun to uncover molecular mechanisms involved in the disease.
What causes schizophrenia?
The exact cause is unknown. Stress, genetic factors, harmful alcohol and other drug use, particularly cannabis and amphetamine use, may trigger psychosis in people who are vulnerable to developing schizophrenia.
What are the symptoms of schizophrenia?
The symptoms of schizophrenia fall into three main categories:
- Positive: e.g. hallucinations, delusions and thought and movement disorders
- Negative: e.g. "Flat affect" (a person's face does not move or he or she talks in a dull or monotonous voice), lack of pleasure in everyday life, lack of the ability to begin and sustain planned activities and speaking little, even when forced to interact.
- Cognitive: e.g. Poor executive functioning, trouble focusing or paying attention and problems with working memory.
How is schizophrenia diagnosed & managed?
Psychotherapy and medications (antipsychotics such as Clozapine, Seroquel, Risperdal or Zyprexa) are most widely used as treatments for schizophrenia .
What research is Garvan doing in this area?
The RNA Biology and Plasticity laboratory is undertaking a significant discovery effort using human patient iPS cells (to derive neuronal cells) and next generation sequencing to investigate the transcriptional landscape dysregulated in schizophrenia-associated neuronal function. This study aims to expose signalling pathways, and the regulation of these, underlying the disease process.
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