Genotype-phenotype studies of novel genomic disorders

Since the introduction of array CGH and SNP microarrays - technologies that allow genome-wide detection of copy number variants (CNVs) - the discovery of novel genomic disorders has increased rapidly. Between 2006-2009, at least 18 novel recurrent disorders have been described. These include rearrangements of 1q21, 15q13, 15q24, 16p13, 17q12 and 17q21. Interestingly, some genomic rearrangements are associated with a wide range of neurocognitive and neuropsychiatric conditions, ranging from mild learning disabilities to epilepsy to schizophrenia. We are interested in understanding the range of phenotypes associated with novel genomic disorders and studying the genetic and epigenetic modifiers that influence clinical outcome.