Advanced technologies in NextGen sequencing at MEDomics presents the opportunity to revolutionize the diagnosis of mitochondrial diseases, says Stan Yakatan, Chairman.
Online PR News – 05-January-2012 – – The Chairman of MEDomics LLC, Stan Yakatan will present investment opportunities with the company at the 5th Annual OneMedForum 2012 to be held at The Sir Frances Drake Hotel, San Francisco on January 9-12th, held during the JP Morgan Healthcare Conference, the largest gathering of healthcare financiers and executives all year. OneMedPlace is the conference devoted to start-up and small companies. The Medomics presentation is scheduled for Tuesday, Jan. 10th at 4:30 p.m.
“The market for mitochondrial disease testing has an estimated market valued in the hundreds of millions of dollars’” says Mr. Yakatan. “MEDomics’ volume in providing these tests is growing greater than 40% annually on a consistent basis, with current annual revenue in excess of 4 million dollars.”
OneMedForum provides an efficient means to meet the management of the firms shaping the future of the rapidly changing healthcare landscape. MEDomics runs a fully established CLIA lab focused on NextGen sequencing. MEDomics’ world-class mitochondrial testing facility uses multiple proprietary tests developed by Steve Sommer, M.D., Ph.D., the company’s founder, president and medical director.
“Mitochondrial diseases are much more common than originally thought, with a prevalence of about one in 500 people,” says Dr. Sommer. “Almost universally a variety of neurologic/ psychiatric symptoms occur, often together with impairment of one or more of vision, muscular, gastrointestinal, cardiac and endocrinological functions. Mitochondria are the “power plants” of the cells, providing energy for cellular processes, including growth and metabolism” says Dr. Sommer. “Mutations in mitochondrial genes may decrease energy production and affect multiple organs. In children, mitochondrial diseases are as common as all childhood cancers combined.“
Dr. Sommer says that mitochondrial diseases can be difficult to diagnose: “Organs generally have different levels of mutant DNA, so the symptoms are extremely diverse and depend on which tissues happen to be the most energy compromised in a given family member. The most commonly affected organ is the brain, while one or more of muscle, eye, gastrointestinal tract, and heart are also affected. While there is no cure as yet, the diagnosis of mitochondrial disease can greatly prolong life and quality of the patient, sometimes enabling effective treatment, in a manner similar to the treatment of diabetes. Current treatment involves increasing available energy, decreasing energy stressors, and tissue-specific treatments.”
“Mitochondrial disease may arise from mutations in the 37 highly mutation-prone mitochondrial genome genes, and/or from mutations in 300+ nuclear genes. For people with mitochondrial genome mutations may have acquired new mutations during their life, or inherited mutations from their mother,” says Dr. Sommer. “Since mitochondrial DNA is not parceled out evenly during egg formation, some children may get a large dose of the mutated DNA, causing severe illness, while others may get a smaller dose, causing milder symptoms or non symptoms at all. In contrast, mutations in the 312 nuclear gene can be inherited from either Mom or Dad, but there remain multiple reasons that can determine the severity of symptoms and only partially overlapping symptoms often occur between affected family members.”
According to Dr. Sommer, MEDomics has developed MitoDx and MitoNucleomeDx tests that employ highly innovative technologies for the detection of mutations in the patients’ mitochondrial and nuclear genomes, respectively. All interpretation and analysis of the tests results are done by a physician experienced in NextGen sequencing. Dr. Sommer says that conventional diagnostic methods are often inconclusive and sometime require invasive biopsies. “In fact, 90% of mitochondrial diseases are not clearly diagnosed. The key to implementing complex tests for mitochondrial diseases lies in the successful interpretation of the vast amounts of data generated. MitoDx and MitoNucleomeDx testing offers a much more sensitive and comprehensive test of blood samples to match patients with the appropriate treatment, which can save lives.” says Dr. Sommer. “Mitochondrial disease is similar to diabetes in the sense that daily treatment can provide a longer better life, even though a cure is seldom achieved.”
“MEDomics is a key company in the development of personalized medicine,” says Mr. Yakatan. “The company is seeking capital for expansion to meet the considerable and expanding demand for its testing services.”
For additional information, visit www.medomics.com
MEDomics is a molecular diagnostic laboratory founded in 2008 by Steve S. Sommer, MD, PhD, with the mission of providing Mutation Expert-based Diagnosis to support the physician in delivering personalized medicine based on genomic analyses of the patient’s DNA. The mutation experts at MEDomics provide unparalleled quality interpretation to aid the practicing physician.
Dr. Sommer, Founder, President, and Medical Director of MEDomics, is a Founding Fellow of the American College of Medical Genetics with 25 years experience in Clinical Molecular Diagnosis and over 300 scientific publications and patents.