These services will initially include Transgenomic’s NuclearMitome Test for mitochondrial disorders.
Under the agreement, the MCW laboratory will become the first laboratory to offer Transgenomic’s NuclearMitome Test. The NuclearMitome Test employs next-generation sequencing technology to identify mutations in 448 genes that are considered important for mitochondrial function, representing the most comprehensive genetic test available for mitochondrial disorders. Mitochondrial disorders are often caused by inherited or acquired mutations in mitochondrial DNA and can result in symptoms affecting multiple organ systems, including the liver, the brain and nervous system, kidneys, and cardiovascular function.
“The NuclearMitome Test is designed to improve the speed and precision of diagnosis for a host of mitochondrial disorders, allowing clinicians to plan the most effective treatment strategy,” said Craig Tuttle, Chief Executive Officer of Transgenomic. “The Medical College of Wisconsin is a world-renowned institution with a robust presence in genomics and genetic testing. This collaboration allows Transgenomic to rapidly expand the commercial use of our NuclearMitome Test in addition to building out our offerings in whole genome and exome testing. We look forward to working with MCW, and to building rapid value through these products.”
“Diagnosing mitochondrial disorders can be quite challenging and, until now, has typically involved the use of wide-ranging genetic and non-genetic tests as well as consultation with various medical specialties,” said Howard Jacob, Ph.D., Director of the Human and Molecular Genetics Center at MCW. “The ability to evaluate 400-plus genes with one diagnostic tool should shorten patients’ diagnostic odysseys and provide faster answers. We look forward to a successful partnership.”
About Mitochondrial Diseases
Mitochondrial diseases are the most common metabolic diseases of childhood with an estimated frequency of 1 in 2000 births. They are characterized by multi-organ involvement, particularly neuromuscular symptoms, and often follow a rapidly progressive course. The variability in clinical presentation makes diagnosis tremendously challenging, as it traditionally relies on often-inconclusive enzymatic analyses that do not pinpoint the underlying molecular defect. Knowledge of the specific cause of disease can be important for developing personalized treatment strategies.
The Medical College of Wisconsin is the state’s only private medical school and health sciences graduate school. Founded in 1893, it is dedicated to leadership and excellence in education, patient care, research and service. More than 1,200 students are enrolled in the Medical College’s medical school and graduate school programs. A major national research center, it is the largest research institution in the Milwaukee metro area and second largest in Wisconsin. In FY 2010 – 11, faculty received more than $175 million in external support for research, teaching, training and related purposes, of which more than $161 million is for research. This total includes highly competitive research and training awards from the National Institutes of Health (NIH). Annually, College faculty direct or collaborate on more than 2,200 research studies, including clinical trials. Additionally, more than 1,350 physicians provide care in virtually every specialty of medicine for more than 400,000 patients annually. In partnership with Children’s Hospital and Health System, MCW developed one of the first whole genome sequencing clinics.