Molecular Genetic Studies of Autism and other Developmental Disorders
Autism is a severely debilitating pervasive developmental disorder, characterized by childhood onset, deficits in communication and reciprocal social interaction coupled with preoccupations, repetitive behaviours, and restricted interests and activities. There is strong evidence for genetic involvement in the aetiology of autism. We are in the process of utilizing a variety of strategies in order to identify genes contributing to the susceptibility to autism, including using evidence from genome scans, and fine-mapping of linkage hotspots. We also propose to fine-map cytogenetic abnormalities and copy number variations and investigate candidate genes that are disrupted. We will also be using traditional homozygosity mapping using consanguineous families multiplex for autism, in order to identify disease genes. A number of mental retardation (MR)/ intellectual disability (ID) disorders frequently share phenotypic overlap with autism. We also propose to study this connection at the molecular level. This will be initiated by mapping, identifying and characterizing new genes for non-syndromic autosomal recessive MR (NS-ARMR) by traditional homozygosity mapping, using consanguineous families. We will investigate the molecular overlap with autism at these new genes and existing NS-ARMR genes.
Molecular Genetic Studies of Bipolar Affective Disorder
Bipolar affective disorder (BPAD), also known as manic-depressive illness, is a chronic and devastating psychiatric condition, affecting 0.5-1.6% of the general population. Recent advances in density and speed of high throughput single nucleotide polymorphism (SNP) genotyping along with reduction in costs has provided us with an excellent opportunity to dissect the genetics of BPAD. We propose to harness these new technologies to identify genetic and genomic aetiological agents of BPAD.