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 The SNP Challenge The completion of The Human Genome Project was hailed as a landmark in human history but the benefits of this endeavour are only just being realised. The promise of The Human Genome Project to explain the genetic basis of disease and human diversity will be delivered through the study of Single Nucleotide Polymorphisms (SNPs), the small variations in DNA that make individuals unique.  The diagram on the left illustrates the process of discovering and identifying SNPs relevant to human health and the potential path for the use of an SNP in a molecular diagnostics test. So far over 2 million SNPs have been discovered in the Human Genome. From this large database, scientists are conducting disease-association studies with small groups of SNPs. An SNP with a strong correlation to a disease state will then be tested in a pilot study possibly leading to use in routine diagnostics and neonatal screening. Variom’s SPOLA is a proprietary SNP detection technology that can be applied across a breadth of applications, from SNP validation to routine diagnostics. The flexibility, accuracy and economy of the technology makes it the perfect research and diagnostic tool . |