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Inside almost all human cells reside tiny compartments called mitochondria, which generate 90 percent of the energy the body needs. When these powerhouses fail, energy production decreases—and cells begin to die. When cells perish throughout the body, organs and entire systems can collapse. The biggest problem? For the nearly 4,000 children born each year with mitochondrial diseases, medicine has yet to find an effective treatment or a cure.
But Dr. Johan Van Hove, a genetics pioneer at Children’s Hospital Colorado, is working on it. In fact, the Mitochondrial Clinic and Laboratory, which have been open for three and four years, respectively, together make up one of only four centers nationally to offer lab-based diagnostics and clinical services for those who—due to one of the 240 known variations of the disease—endure seizures, developmental delays, eye-movement problems, strokes, gastrointestinal problems, deafness, heart and kidney issues, immune system problems, and liver disease.
“Finding a cure is our goal,” Van Hove says, “but my most immediate goal is developing an efficient diagnostic process.” That’s critical because many patients are misdiagnosed and do not get the treatment they need. Fortunately, Van Hove recently received a bit of extra help for his crusade. In late 2012, his mito clinic joined the North American Mitochondrial Disease Consortium. Inclusion offers access to a large database of patients and, eventually, the ability to participate in clinical trials.