Summer 2010 Newsletter

future_newsletter_2010:newsletter 5/11/10 8:59 AM Page 1 Byron Pitts of 60 Minutes Joins Famous People Poster for National Stuttering Awareness Week, May 10-16 Page 5 THE STUTTERING FOUNDATION ᭨ A Nonprofit Organization SUMMER 2010 Since 1947 ... Helping Those Who Stutter Starkweather Receives Malcolm Fraser Award C. Woodruff Starkweather, Ph.D., received the 2010 Malcolm Fraser Award during the January meeting of the Special Interest Division for Fluency and Fluency Disorders. Barbara Amster, Ph.D. made the following award presentation: I was asked to give the highlights of the awardee’s career. This is not an easy feat as his Dennis Drayna, Ph.D., researcher for the National Institute on Deafness and Other CV is more than 25 pages long, Communication Disorders. See page 2 for the NIDCD press release. but I will try to give you only the highlights. Woody Starkweather is an in- dividual whose contributions Researchers Discover over more than 40 years have promoted and enhanced public First Genes for Stuttering and professional understanding The mystery behind a complex therapy and early intervention of the nature of stuttering and its disorder called stuttering became with young children remain the treatment. He has demonstrated a little clearer with the announce- best option for now.” excellence in the field of stutter- ment of the discovery of three “We have long known that ing as a master teacher, advo- genes for stuttering by Dennis stuttering runs in families,” says cate for people who stutter, and Drayna, Ph.D., a director of the Fraser. “We want to emphasize scholar/researcher. In the words Stuttering Foundation and re- that a genetic predisposition for of one of his nominators, “I be- searcher for the National Institute stuttering does not mean a per- lieve that he is one of only a few on Deafness and Other son will have a lifelong prob- Communication Disorders. lem. Early treatment in young people whose contributions to “This research is important be- children can effectively prevent the field of stuttering go beyond cause it’s another indication that stuttering.” a listing of research, teaching, emotional factors such as anxiety Developing an understanding and service accomplishments. or ‘bad parenting’ do not cause of the biological basis of stutter- Continued on page 6 stuttering. It could also point the ing may someday lead to better way for a cure one day,” says early diagnosis, differential Jane Fraser, president of the treatments for people with ge- Stuttering Foundation. netic indicators, and a better un- “We hear every day from par- derstanding of how speech pro- ents worried that they have duction happens differently for caused their child’s stuttering. people who stutter. Although Parents don’t cause stuttering, Dr. Drayna notes that his find- and this research should lift the ings are unlikely to have any Jean Gruss, grandson of SFA burden of guilt from their shoul- immediate impact on treatment, founder Malcolm Fraser, and ders,” Fraser noted. “But because they nonetheless represent a C. Woodruff Starkweather at a cure may be years away, speech giant step forward. the award ceremony. future_newsletter_2010:newsletter 5/11/10 8:30 AM Page 2 THE STUTTERING OUNDATION᭨ 2 www.stutteringhelp.org F 800-992-9392 Press Release from the National Institute on Deafness and Other Communication Disorders: Findings Suggest Stuttering, in Some Cases, May Actually be an Inherited Metabolic Disorder Feb. 10, 2010 — Stuttering may be rounding a new marker and identi- some. Large deposits of these sub- the result of a glitch in the day-to-day fied mutations in a gene known as stances ultimately cause joint, skele- process by which cellular components in GNPTAB in the affected family tal system, heart, liver, and other key regions of the brain are broken members. The GNPTAB gene is health problems as well as develop- down and recycled, says a study in the carried by all higher animals, and mental problems in the brain. They Feb. 10 Online First issue of the New helps encode an enzyme that assists are also known to cause problems England Journal of Medicine. The in breaking down and recycling cel- with speech. study, led by researchers at the National lular components, a process that “You might ask, why don’t people Institute on Deafness and Other takes place inside a cell structure with the stuttering mutations have Communication Disorders (NIDCD), called the lysosome. more serious complications? Why part of the National Institutes of Health, They then analyzed the genes of don’t they have an ML disease?” has identified three genes as a source of 123 Pakistani individuals who stut- posed Dr. Drayna, senior author of the stuttering in volunteers in Pakistan, the ter—46 from the original families and paper. “ML disorders are recessive. United States, and England. Mutations 77 who are unrelated—as well as 96 You need to have two copies of a de- in two of the genes have already been unrelated Pakistanis who don’t stutter, fective gene in order to get the dis- implicated in other rare metabolic disor- and who served as controls. ease. Nearly all of the unrelated indi- ders also involved in cell recycling, Individuals from the United States and viduals in our study who stuttered had while mutations in a third, closely relat- England also took part in the study, only one copy of the mutation. Also, ed, gene have now been shown to be as- 270 who stutter and 276 who don’t. with stuttering, the protein is still sociated for the first time with a disorder The re- made, but it’s not made exactly right. in humans. searchers With ML diseases, the proteins typi- “For hundreds of years, the cause f o u n d cally aren’t made at all. Still, there are of stuttering has remained a mystery some in- a few complexities remaining to be for researchers and health care profes- dividuals understood, and we’d like to learn sionals alike, not to mention people who stut- more about them.” who stutter and their families,” said ter pos- The findings open new research James F. Battey, Jr., M.D., Ph.D., di- sessed the same mutation as that found avenues into possible treatments for rector of the NIDCD. “This is the first in the large Pakistani family. They also stuttering. For example, current study to pinpoint specific gene muta- identified three other mutations in the treatment methods for some lysoso- tions as the potential cause of stutter- GNPTAB gene which showed up in mal storage disorders involve inject- ing, a disorder that affects 3 million several unrelated individuals who stut- ing manufactured enzyme into a per- Americans, and by doing so, might ter but not in the controls. son’s bloodstream to replace the lead to a dramatic expansion in our GNPTAB encodes its enzyme with missing enzyme. The researchers options for treatment.” the help of another gene called wonder if enzyme replacement ther- Stuttering is a speech disorder in GNPTG. In addition, a second en- apy might be a possible method for which a person repeats or prolongs zyme, called NAGPA, acts at the next treating some types of stuttering in sounds, syllables, or words, disrupting step in this process. Together, these the future. the normal flow of speech. It can enzymes make up the signaling The researchers estimate that severely hinder communication and a mechanism that cells use to steer a roughly 9 percent of people who stut- person’s quality of life. Most children variety of enzymes to the lysosome to ter possess mutations in one of the who stutter will outgrow stuttering, do their work. Because of the close three genes. Among the next steps, although many do not; roughly 1 per- relationship among the three genes in they are conducting a worldwide epi- cent of adults stutter worldwide. this process, the GNPTG and demiological study to better deter- Stuttering tends to run in families, NAGPA genes were the next logical mine the percentage of people who and researchers have long suspected a place for the researchers to look for carry one or more of these mutations. genetic component. Previous studies possible mutations in people who They are also conducting biochemi- of stuttering in a group of families stutter. Indeed, when they examined cal studies to determine specifically from Pakistan had been done by these two genes, they found muta- how the mutations affect the en- Dennis Drayna, Ph.D., a geneticist tions in individuals who stutter, but zymes. A long-term goal is to use with the NIDCD, which indicated a not in control groups. these findings to determine how this place on chromosome 12 that was The GNPTAB and GNPTG genes metabolic defect affects structures likely to harbor a gene variant that have already been tied to two serious within the brain that are essential for caused this disorder. metabolic diseases known as mucol- fluent speech. In the latest research, Dr. Drayna ipidosis (ML) II and III. MLII and In addition to the NIDCD, researchers at the and his team refined the location of MLIII are part of a group of diseases University of Punjab, Lahore, Pakistan; the this place on chromosome 12 and called lysosomal storage disorders Hollins Communications Research Institute, focused their efforts on the new because improperly recycled cell Roanoke, Va.; the National Human Genome Research Institute (NHGRI); and the NIH Clinical site. They sequenced the genes sur- components accumulate in the lyso- Center contributed to this work. future_newsletter_2010:newsletter 5/11/10 8:33 AM Page 3 THE STUTTERING SUMMER 2010 FOUNDATION ᭨ 800-992-9392 3 More than 100,000,000 People Reached! Feb.

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