A 20-month-old girl suffering from a rare neurodegenerative disease was diagnosed by exome sequencing and successfully treated. The case, which exemplifies the potential of precision medicine, involved scientists at Columbia University Irving Medical Center and Duke University, and is described in two papers that were published in the online journal Cold Spring Harbor Molecular Case Studies.

Without advanced genetic testing, the child would most likely have been misdiagnosed and would have succumbed to the illness, called Brown-Vialetto-Van Laere Syndrome 2 (BVVLS2), a progressive and usually fatal neurodegenerative disease. This is the earliest that a patient with this disease was effectively treated, made possible only through whole exome sequencing.

“Being able to diagnose a genetic disease doesn’t always mean we’re able to use what we know to treat or cure the patient, so this case was unusual,” said study leader David B. Goldstein, PhD, professor of genetics and development and director of the Institute for Genomic Medicine at CUMC. “Nonetheless, it demonstrates how exome or whole genome sequencing can benefit patients. As we learn more about the genetics of disease and discover new treatments, cases like this will become increasingly common.”

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