Rochester now offers gene test to detect Batten disease

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.

Because of its rarity, the disease is not a common target of researchers’ efforts to cure disease – heart disease, cancer, diabetes, and Alzheimer’s disease, for example, affect many more people and offer more “popular” targets for many researchers. But the disease has become the focus of David Pearce, Ph.D., a professor of Biochemistry and Biophysics. Pearce uses yeast to learn about genetics, and Batten disease offered him the opportunity to apply his findings in a way that might directly benefit people someday. By studying yeast and mouse models of the disease, Pearce has made a series of findings that are clearing up the once-mysterious condition, and he is in the initial stages of testing compounds that might one way be used to treat a disease for which no approved treatment currently exists.

In 2005 the University become home to an internationally recognized Batten disease center, offering the only program in the world devoted to the diagnosis and care of children with the disease. Rochester scientists and physicians established the Batten Disease Diagnostic and Clinical Research Center to give families and patients a one-stop resource for diagnosis, treatment, and support. The center, funded by the Batten Disease Support and Research Association (BDSRA), is led by pediatric neurologist Jonathan Mink, M.D., Ph.D., chief of the Division of Child Neurology at Golisano Children’s Hospital at Strong. A group of University neurologists including Mink as well as Jennifer Kwon, M.D., and Fred Marshall, M.D., has likely seen more children with the disease than any other group of doctors in the world.

Currently in Rochester, more than two dozen children with Batten disease – one of the biggest gatherings of such children ever – are gathered along with approximately 500 family members and scientists in an annual gathering to discuss progress against the disease and to support families who are caring for a child with the disease. Many of the children are being evaluated this week by doctors, nurses and neuropsychologists at the center.