X ISN'T JUST FOR KIDS ANYMORE. IN 1991, EMORY HUMAN GENETICS CHAIR STEPHEN
WARREN LED THE INTERNATIONAL RESEARCH TEAM THAT DISCOVERED THE GENE RESPONSIBLE
FOR FRAGILE X SYNDROME, THE MOST FREQUENTLY INHERITED FORM OF MENTAL RETARDATION.
He then was among the first to develop genetic tests both to diagnose the
disease in children and to predict the chances of having a child affected
by the syndrome. Today, as the undisputed
leaders in research on this disorder, with the largest NIH-funded fragile
X research program in the world, Warren and his colleagues can read that
gene like a book. And there are chapters there that no one suspected.
Emory researchers have discovered, for example, that an intermediate form of the gene mutation, affecting six of every 100 people, causes a variety of learning disabilities, behavioral problems, and other neurologic and neuropsychologic consequences that become more and more evident with age. Studies by Emory geneticist Stephanie Sherman focus on women with a milder form of the genetic mutation who are at risk not only for having a child with fragile X syndrome but also for premature ovarian failure, making it difficult for them to have a child at all. Those findings are actually good news, says Warren, because new understanding of how the fragile X gene causes problems is making possible new ways to diagnose and control those problems, just as diagnosis in children made possible early counseling and drug therapy for maximum positive impact on learning and behavior.
Most promising of all, researchers from across the Emory campus are working on exciting new therapies in mouse models that appear to reactivate production of the protein that is missing in fragile X. The rapidly growing clinical arm of Emory’s human genetics department now sees almost 5,000 patients annually, ranging from pregnant women and newborns to newly diagnosed cancer patients concerned about familial risk. It’s all part of Emory’s own genetics revolution, geared to translating research findings into interventions in clinical care.
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