Rochester has become one of only a handful of communities around the world to offer a genetic test to detect Batten disease, a deadly inherited disorder.
The Batten disease center at the University of Rochester Medical Center now offers genetic testing – the only way to definitively diagnose the disorder – for the three most common forms of Batten disease. The testing is done through the Molecular Diagnosis Section of the Department of Pathology and Laboratory Medicine; the section is led by Professor Paul Rothberg, Ph.D.
The genetic test – done with a simple swab of the inner cheek – often is done after years of searching by families who have watched their children undergo years of suffering, including lost vision, seizures, and cognitive deterioration. The genetic test offers the family a new course, tragic though it may be: putting an end to the search for answers, allowing the family and health providers to nail down the diagnosis and focus their efforts on treating the disease as effectively as possible.
The test can also be used to identify family members who carry the defective gene that would make it possible for their offspring to get the disease, and to identify relatives who don’t have the defective gene and have no risk of passing it on.
Approximately 3 million Americans carry the defective gene behind Batten disease, but the disease only comes about if someone with the defect has a child with someone else with the defect – highly unlikely in a nation with more than 300 million people. Even then, their offspring have a 1 in 4 chance of having Batten disease. Approximately 500 to 1,000 children in the United States have the disease, along with a few thousand other children around the world.
The disease comes about as the consequence of a genetic defect that results in the malfunctioning of a single protein. The flawed protein results in the accumulation of toxic cellular waste that ultimately kills brain cells in patients, causing an array of physical and cognitive symptoms.