Hunting Disease In The Dark: MEDomics Seeks to Treat Mitochondrial Disease Before It Occurs

The core theory behind preventative medicine is almost psychic.  To stop a disease from wielding its mighty weapons before it occurs is based on foreknowledge of a patient’s susceptibility to the illness.

Mitochondrial disease, caused by mutations to mitochondrial DNA, can be debilitating and life threatening because mitochondria are critical to cell functioning.  But MEDomics, a diagnostic company committed to interpreting personalized genotype information in an effort to delay and prevent disease before it occurs and give doctors a basis on which to provide personalized medicine, has developed sensitive clinical tests for mitochondrial disease that can lead to better diagnosis for patients suspected to have mitochondrial disease and eliminate painful and expensive muscle biopsies.

The “diagnostic genome” is the complete deep sequencing of an individual’s genome performed such that at least 99% of the variants that exist in that individual’s genome are detected. The team at MEDomics believe that the first diagnostic genome will be a milestone in the history of medicine.

The current medical system focuses on the treatment of conditions after they occur. The promise of preventative medicine involves utilizing the risk factors for certain diseases and focusing medical efforts on preventing the disease before it strikes. However, one must know the risk factors in order to do this. By far, the most powerful way to determine one’s risk factors is by discovering one’s genomic variants. Discovering all of the genomic variants for an individual has been virtually impossible until recently.

MEDomics announced a 44-fold increase in clinical testing sales for mitochondrial disease at OneMedForum SF 2011.

“… Mitochondrial diseases are much more common than originally thought, with a prevalence of about 1:500. In children, mitochondrial diseases are as common as all childhood cancers combined.” Says Carolyn Buzin, PhD, a mutation expert in mitochondrial diseases.

Dr. Steve Sommer, Founder and Medical Director of MEDomics says, “While there is no cure as yet, the diagnosis of mitochondrial disease can save lives by enabling effective treatment.”

The investment opportunities may be vast in this field where NextGen-based sequencing is rapidly advancing and could revolutionize personalized medicine. The opportunities generated by $1 of investment in this field today may require $10 of investment 3 years from now.

Another company doing studies in DNA sequencing is Pressure BioSciences.