"Definitive HAPLOmacy Supersedes Complacent DIPLOmacy"
HAPLOMIC TECHNOLOGIES PTY LTD NEWS RELEASE AUGUST/SEPTEMBER 2007 Haplomic Technologies Pty Ltd (Haplomics), a Melbourne based biotechnology company, has achieved its â€˜businessâ€™ objective with the filing of five provisional patents on powerful new generation genetic diagnostics technologies. In accordance with investor agreements Haplomics will now proceed with the commercialization of its portfolio of Intellectual Property. Haplomicsâ€™ views the 46 chromosome GENOME as two distinct sets of 23-chromosome haplotypes (HAPLOMES). The IP embodies definitive di-haploid typing (Trade Marked - HaploSome Typing) which derives from three fundamental premises: 1. combinations of nucleotide sequence variations as haplotypes are more informative than single nucleotide polymorphisms (SNPs); 2. the biologically relevant haplotype is not some arbitrary combination of SNPs, but the chromosome segment bounded by sites of recombination. Such haplotypes are the true Mendelian units of inheritance. Full-length chromosomes comprise Mendelian unit haplotypes inherited from each parent as an alternating linear mosaic bounded by recombination break sites. 3. Genetic diagnostics is definitive only if haplotype units are directly analyzed as separate chromosome haploid sequences. Current genomic (2-chromosome diploid) DNA testing arbitrarily assigns haplotypes by probability inference, allowing for ambiguous and hence inaccurate results. A definitive understanding of genetic function depends on distinguishing the individual haplotype contributions of each chromosome, since it is now well known that most genetic and epigenetic processes are specific to the same chromosome Haplomicsâ€™ patents encompass single chromosome separation, haploid linear DNA analysis, haploid epigenetic methylation analysis, and microarray technology for alternative-to-single molecule sequencing high throughput haploid testing. One patent provides for non-linear sequence analysis of genomic composition that is not apparent from â€˜readingâ€™ the content of genomic DNA in a linear manner (from â€˜left to rightâ€™). The presence of repeated oligonucleotide groups, and the order of their clustering as multi-group sets, provides new functional information in the form of multi-nucleotide group variation within haplotypes, in contrast to point-by-point SNP-based variation. It has been known since at least the late 1970â€™s that sequence elements regulating expression of protein coding genes exist tens and even 100â€™s of kilobases into the â€˜junk boondocksâ€™. The diagnostic significance of these distant elements is that individuals with apparently the same arbitrarily determined haplotype may differ in their recombinational boundaries, and therefore in the lateral extent of their Mendelian unit haplotype. Thus two individuals with the same gene (allele) type may differ in their gene expression functional type, and hence in their risk / resistance phenotype. There is increasing awareness that segments of protein-coding exons and flanking introns, bounded up and downstream by untranslated sequence, the whole complex â€˜cookie-cutâ€™ in its demarcation as a classical â€˜geneâ€™, can no longer be accepted as a stand-alone functional entity. This realization is leading to questioning by Patent Offices as to the validity of the 4000+ single (â€˜industrialâ€™) gene patents. Haplomicsâ€™ patents were invented by Dr Malcolm J Simons, Haplomicsâ€™ Chief Scientific Officer. Dr Simons is internationally recognised for his understanding of non-protein but RNA coding DNA. In 1989 Dr Simons recognized that â€˜Junkâ€™ DNA was non-randomly organised as haplotypes, and patented the utility of non-coding haplotype markers for genetic typing and disease gene discovery. The patent was assigned to Genetic Technologies Limited (NASDAQ: GENE). In October 2006, at the International Congress of Immunogenomics and Immunomics in Budapest, Dr Simons as Honorary President of the International Post Genetics Society (IPGS), delivered an address proposing a â€˜Post-Geneâ€™ era in which genetics needs to break from the 20th century myopic view of â€˜genes and genes aloneâ€™ and embrace the 21st century paradigm of non-coding DNA and its functional role in genomic organization and downstream biological complexity. (www.postgenetics.org). HaploSome Typing is Haplomicsâ€™ solution to â€˜the definitive genetic diagnostic testâ€™ and takes account of both currently recognized limitations of diploid genomic DNA testing and assertions of single (â€˜industrialâ€™) gene function claims. HaploSome Typing is applicable to all areas of genetic and genomic investigation. For further information please contact: R. Geoffrey Swanson Chief Executive Officer Haplomic Technologies Pty Ltd Email: [email protected] Telephone: 61-(0)3-9537-2850 Mobile: 61-(0)-408-391424