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Being able to diagnose a genetic disease doesnt always mean were 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. The girl was first seen at age 15 months at Duke University Hospital. Doctors suspected that her symptoms, which included gait abnormalities, arm weakness, vision problems, and excessive drooling, were due to an autoimmune disorder. After four months of steroid treatment failed to improve her condition, she was referred to Dr. Goldstein, then director of Dukes Center for Human Genome Variation. Sequencing of her exome (the protein-coding portion of the DNA) and other genetic testing conducted at Duke and at CUMC, revealed that she had mutations in both copies of the SLC52A2 gene. Such mutations cause severe riboflavin (vitamin B2) deficiency, leading to BVVLS2. The CUMC researchers, including Slave Petrovski, PhD, an associate research scientist and co-author of the two papers, showed that the mutations in SLC52A2 disrupted the typical expression of the protein, and confirmed the diagnosis.