In cancer the genome becomes very unstable, resulting in specific regions that may be deleted (if they contain a tumor supressor) or amplified (if they contain an oncogene). Amplifications and deletions have also been observed in the normal human population and are referedreferred to as Copy Number Polymorphisms (CNPs). Jonathan Sebat was one of the first researchers to report in the journal 'Science' in 2003 that these CNPs give rise to human genomic variation and may contribute to our phenotypic differences. Tremendous research efforts are being conducted now to understand the role of CNPs in normal human variation and neurological diseases such as autism. By understanding which regions of the genome have undergone copy number polymorphisms in disease, scientists can ultimately identify genes that are overexpressed or deleted and design drugs to compensate for these genes to cure genetic diseases.
