We've only just begun . . .
Close Window
 
to define the possible
Print this page
     
  3 billion: THE NUMBER OF PAIRED CHEMICALS (BASE PAIRS) IN THE HUMAN GENOME, WHICH FORM RUNGS IN THE LADDER OF DNA  
     
  FRAGILE 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.
 
     
     
     
  Screening newborns for
treatable genetic disorders
 
     
  Since the late 1970s, more than 2 million babies in Georgia have undergone screening for inherited metabolic diseases, saving lives and preventing disabilities in thousands of children.  
     
  MCAD deficiency prevents the body from metabolizing fats and can be disastrous for an infant or small child. The inherited disorder has no telltale signs. But when some ordinary sickness causes the little one to vomit or refuse to eat, those ordinary behaviors trigger hypoglycemia, sleep apnea, or cardiac arrest. One of five affected children dies from the first sick episode. The disorder, which recently became more easily identified thanks to new technology, accounts for one of every 100 SIDS deaths. Last year, Georgia added MCAD to its newborn screening program, established years ago with Emory leadership to test for genetic diseases whose ill effects can be prevented if the disease is identified early enough. Until they grow out of danger, babies with MCAD deficiency are followed at Emory’s genetics center with support from Emory’s sleep apnea center, the largest in the nation.  
     
     
 
     
  YOU CAN HELP!  
     
  Define the possible:  
     
  > SPEED UP THE COUNTDOWN ON FRAGILE X SYNDROME. Researchers know the type of drug that could compensate for the protein that is missing in fragile X. They are betting they’ll have a drug ready for clinical trials within the decade, but a primate model of fragile X would help shorten this time frame. Investments of $50,000 to $500,000 would help make this model a reality.  
     
  > ACCELERATE THE PROMISE OF A CURE FOR AUTISM. Emory’s human genetics department includes the world’s top experts in the only two known causes of autism: the fragile X gene and duplication of chromosome 15. A donation of $300,000 would create two endowed graduate fellowships to bring the brightest and best young scientists to work with these experts to accelerate their quest.  
     
  > GIVE A KID SOMETHING FUN TO EAT. For children whose genetic disorder means they can’t metabolize specific foods, an ice cream cone or hamburger can lead to brain damage. That’s why clinical faculty in human genetics are building a special food store and demonstration kitchen where parents and kids can learn how to make meals both healthy and appetizing. A gift of $500,000 would help complete this facility.  
     
  Send your gift today by calling 404-727-3518, or give online.  
     
 
Copyright © Emory University, 2006. All Rights Reserved