Meeting Background

2010 is the 20th and 10th anniversary respectively of the publication of two seminal papers, first the description of a large Scottish pedigree with multiple cases of major mental illness co-segregating with a balanced 1:11(q21;q43) translocation⁽¹⁾ and second the identification of the DISC1 (Disrupted in Schizophrenia 1) gene at the site of the chromosome 1 breakpoint in the family ⁽²⁾. Since 2000, over 170 primary studies have been published on the genetics, molecular and cell biology of DISC1 gene and its interacting partners. In 2005, Science Magazine in their annual review of scientific breakthroughs highlighted the DISC1 studies by Kamiya et al ⁽³⁾ and by Millar et al ⁽⁴⁾ because they were judged to offer a first insight into the molecular basis of psychiatric disorder. These studies sparked a cascade of further research that at each turn has expanded our understanding of how DISC1 and its multiple interactors influence genetic risk, neurodevelopment and neurosignalling.

1. St Clair, D, Blackwood D, Muir W, Carothers A, Walker M, Spowart G, Gosden C, Evans HJ. 1990 ‘Association within a family of a balanced autosomal translocation with major mental illness.’ Lancet, 336:13-6.
2. Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS, Semple CM, Devon RS, St Clair DM, Muir WJ, Blackwood DHR and Porteous DJ 2000 ‘Disruption of two novel genes by a translocation co-segregating with schizophrenia.’ Human Molecular Genetics, 9: 1415-1423.
3. ‘A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development’ Nature Cell Biology, 2005, 7:1167-78
4. ‘DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling’ Science, 2005, 310:1187-91)