Dr. Malcolm J. Simons, the founder of Simons Haplomics, is the inventor of far reaching patents for non-coding DNA diagnostic and Gene discovery.
Dr Simons pioneered the concept that 'Junk' non-coding DNA could not be 'Junk' because the DNA sequence differences were ordered, and were conserved between humans of the same coding gene type. The ordered sequence patterns marked lengths of chromosomes, including adjacent and remote genes.
Dr. Simons' vision sixteen years ago has led to patents which underpin DNA Diagnostics, and upon which genome-wide gene discovery in single patients is based. The gene mapping method, involving sequence variants in non-coding DNA, is being utilised by the National Institute of Health sponsored international consortium for haplotype mapping (HapMap).
In 2001, Dr. Simons realised that the completion of the Human Genome sequence enabled an improved gene discovery strategy, particularly suited to those common diseases thought to involve many genes studded around the 23 pairs of chromosomes comprising the genome. These 23 pairs comprise 46 single chromosome haplomes.
The Haplomics solution for Gene discovery involves the ultimate elements of genetics; single cells, single chromosomes, and their contained single Genes. Patent filings in 2003 concerning recovery of single foetal cells and describing the Haplomics strategy for multi-gene discovery, mark the commencement of the Haplomic era in Genetic research and Gene Discovery.