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Genesis Genomics

Our Science

Research Core: Mitochondrial Genomics

Genesis Genomics’ multidisciplinary research team has developed a unique capacity to decode disease dynamics from the intricacies of the mitochondrial machinery.

The mitochondrion plays a central role in the orchestration and execution of those cellular events critical to both the causative and reactive mechanisms of diseases such as cancer.

In fact, it is the mitochondrion that is responsible for many of the cellular processes considered to be the hallmarks of tumorigenesis.

As a result of the foundational role of mitochondria in carcinogenic pathways, disease associated changes can be detected and redirected very early in the transformation process when the chances of successful intervention are still extremely high.

Ultimately it is the promise and potential seen in the mitochondria that fuels Genesis Genomics’ vision to transform human healthcare.

Discovery Formula

The Company’s discovery formula represents a quantum shift in the approach to biomarker identification and validation – a significant advancement in the fields of
molecular diagnostics, therapeutic monitoring, patient stratification, drug development

The mitochondrial biomarkers identified and under development by Genesis Genomics allow for:
  • Unprecedented early detection of disease
  • Non-invasive, bio-fluid based detection and monitoring of cancers
  • Reliable and robust detection of disease
  • Diagnosis of disease in adjacent normal tissue or tumor margins through field cancerization
  • Rapid, cost effective screening of formalin fixed paraffin embedded (FFPE) clinical tissue specimens

Discovery Highlights

Since 2002 the research team at Genesis Genomics has generated significant discoveries and intellectual property assets relating to disease diagnostics, mitochondrial biology, and mitochondrial genomics. Several commercial assays have been leveraged from these discoveries in North America and Europe.
  • 3.4kb, and 4kb mitochondrial genome rearrangements associated with cancer[1]
  • A 3.9kb mitochondrial genome rearrangement resulting from exposure to ultraviolet radiation[2]
  • Progression of the concept of field cancerization, a phenomenon whereby normal appearing cells in the vicinity of cancerous cells share similar molecular profiles; in particular to Genesis’ research, these profiles are indicated by mutated mitochondrial signatures[1,3]
  • Further characterization and evidence for the pseudomitochondrial genome, mitochondrial-like DNA sequences present in the nuclear genome[4]

THE GENESIS GENOMICS’ RESEARCH ENGINE HAS PROPELLED THE COMPANY INTO THE LEADING POSITION IN THE FIELD OF MOLECULAR DIAGNOSTICS AND MITOCHONDRIAL GENOMICS, FOSTERING THE GENESIS OF A NEW PARADIGM FOR DISEASE EXPLORATION AND THE EVOLUTION OF A NICHE INTELLECTUAL PROPERTY POSITION.





[1] Maki, et al. Mitochondrial Genome Deletion Aids in the Identification of False- and True-Negative Prostate Needle Core Biopsy Specimens. Am J Clin Path. 2008;129;57-66.
[2] Krishnan, et al. The Use of 3895 bp Mitochondrial DNA Deletion as a Marker for Sunlight Exposure in Human Skin. J Invest Dermatol. 2004;123;1020-1024.
[3] Parr, et al. Somatic Mitochondrial DNA Mutations in Prostate Cancer and Normal Appearing Adjacent Glands in Comparison to Age-Matched Prostate Samples without Malignant Histology. J Mol Diagn. 2006; 8;312-319.
[4] Parr, et al. The Pseudomitochondrial Genome Influences Mistakes in Heteroplasmy Interpretation. BMC Genomics. 2006; 7;185.

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