Secure Genetics
cutting edge knowledge about molecular medicine from the human genome through to clinical and therapeutic strategies
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HUMAN DISEASES
What we provide: We evaluate data on human disease conditions and generate high value interpretations at the genomic, epigenetic, cell biological, phenotypic, clinical and commercial levels.
Our analyses. As an example of this multilevel analysis, we have chosen the most complex of common human conditions, the schizophrenias, which we have analyzed using microarray, neuroanatomical, fMRI, neuropsychiatric, in situ, molecular, Single Nucleotide Polymorphism (SNP), knockout and drug perturbation data. All current antipsychotic drugs only alleviate the symptoms by decreasing dopaminergic transmission and the annual healthcare costs exceed $65 billion in the
We have published our analyses on the schizophrenias in Nature Biotechnology and have concluded that single gene biomarkers are virtually useless in terms of clinical diagnostics and therapeutics. We find enormous inter-patient variation using transcriptomic and proteomic analyses; transcripts from the same locus can be increased, decreased or remain steady in different patients, while some are altered only in the left brain structures, such as the hippocampus and not the right. In addition, biomarkers are influenced by the differing medications taken by patients.
Recent data further reveal that schizophrenic patients, as well as those with autism and various forms of mental retardation, can have segmentally aneuploid genomes, that is, they carry hundreds of deletions and duplications (also called Copy Number Variants, CNVs). Deletions in excess of 500kb, sometimes as large 3 mega bases, have been described in such individuals. These large genomic perturbations have different and more potent effects on clinical phenotypes than most SNPs currently under examination as causative factors in human diseases. Large CNVs contribute differently to the disease burden of a patient than SNPs. They require novel clinical interpretations and a reassessment of drug-based strategies.
The reality is that most genetic counsellors and physicians are not trained in the clinical consequences of segmental aneuploidy, particularly as it relates to disturbances of the nervous system, or of the pitfalls inherent in the newer data sets involving methylation-based epigenomics, microRNAs, long non-coding RNAs and high-throughput genotyping. Nor can they be expected to evaluate either the statistical or clinical significance of Genome Wide Association Studies in the context of large genomic alterations. These are, however, areas in which Secure Genetics integrates across research, statistical and clinical disciplines. We have a track record in diverse genomic manipulations especially in the area of segmental aneuploidy, (published in Genetics) where we were involved with the first complete genome-wide analysis of deficiencies and duplications in a higher eukaryote.
The way ahead. We provide clinically and commercially meaningful insights into different complex human diseases by bridging very different fields and providing novel cross-discipline know how. The broad expertise available to us spans genetics and epigenetics, histopathology and cytology, autopsy evaluations, cardiology, neuroimaging and transcranial stimulation, and allows for our in-depth analyses of disease burden.
1972, Lindsley, D.L. et al., Genetics, 71, 157-184. Segmental aneuploidy and the genetic gross structure of the Drosophila genome.