Genetic investigations are at last providing clear and valuable insights into the molecular and cellular events underlying the complex and varied psychopathology of neurodevelopmental disorders. Recent discoveries in the fields of autism, schizophrenia, idiopathic epilepsy and learning disability highlight the genetic complexity of these conditions, but also demonstrate substantial overlap of genetic risk factors between different clinical phenotypes.
The investigators of the Genetic Control group have diverse interests spanning from bench to bedside — from molecular to clinical genetics by way of cell biology and animal models. The clinical scientists from the Divison of Psychiatry and Clinical Genetics play an active role in major international consortia, contributing DNA samples from large groups of patients with learning difficulties or psychiatric illness, with the advantage of being able to re-contact individuals throughout Scotland to follow-up interesting genetic observations. The molecular and cellular biologists from the Institute of Genetics and Molecular Medicine and the Wellcome Trust Centre for Cell Biology use cutting edge genomic technologies to catalogue normal and pathogenic genetic variation, and model systems in cells, animals and patient-derived stem cells to study neurodevelopment and brain function in the laboratory.
A particular focus has been gene discovery through the analysis of rare familial genetic variants identified by cytogenetics, microarray hybridisation and DNA sequencing. Important gene discoveries by the Psychiatric Genetics Group include DISC1, PDE4B, NPAS1, GRIK4 and ABCA13, each of which identifies an aspect of brain biology now implicated in psychiatric illness. Another Patrick Wild Centre Investigator studies the role of DNA methylation in the debilitating autism spectrum disorder Rett Syndrome. The recent demonstration that Rett-like symptoms in mice can be reversed by gene therapy has stimulated the search for therapeutic approaches. Further progress towards discovering the biological pathways implicated in these disorders is now likely.