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NEUROGENETICS Advances in neurogenetics opens window to rare neurological conditions STORY HIGHLIGHTS Genomic technology has important implications for patients with genetic disorders that have eluded diagnosis and for those who may have been misdiagnosed in the past. The evolving technology has led to surprising discoveries of rare diseases that never would have been expected based on how they were originally described. The advent of genomic technologies, particularly exome sequencing, has vastly improved the ability of neurogeneticists at major centers like UCLA to diagnose patients with extremely rare neurologic conditions, according to Brent L. Fogel, MD, PhD, associate professor of neurology and human genetics and director of UCLA’s newly established Clinical Neurogenomics Research Center. This has important implications, both for patients with genetic disorders that have eluded diagnosis and for those who may have been misdiagnosed in the past, Dr. Fogel says. Exome sequencing is a diagnostic tool that allows physicians to sequence all the protein- coding information of the 20,000 genes in the human genome simultaneously — some Photo: Science Photo Library UCLAHEALTH.ORG 1-844-4UCLADR (1-844-482-5237) 70 million base pairs — in just a few hours. Using that information, a team of scientists and clinicians, including neurogeneticists, can do a complete assessment of what, if any, potential mutations fit the patient’s clinical phenotype. “We’ve been using this test for more than five years, and it has revolutionized the way genetic testing is performed and our patients are evaluated,” Dr. Fogel says. “Before we started, it was very challenging to diagnose these patients because of the number of potential genes involved. We had to make our best guess as to what gene was the problem, which meant the testing was biased; we were limiting ourselves to a certain small set of genes and if it wasn’t there, we never were going to find it. Now that we are looking across the entire genome, if there