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DUX4 and FSHD

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DUX4 and FSHD WINTER 2008 Including Donors 2007 FSHA publication of the FacioscapulohumeralW Muscularatch Dystrophy Society Connecting the community of patients, families, clinicians and investigators DUX4 and FSHD: How the FSH Society Connects the Research Community By Alexandra Belayew, Ph.D., Universi- thousands of individuals have benefited onto which the HLTF protein was bound ty of Mons-Hainaut, Mons, Belgium, and from Prof. Collen’s discovery. At that in the cell. Such experiments, named Alberto Rosa, M.D., Ph.D., Institute for time, Dr. Belayew was studying a protein chromatin immunoprecipitation (ChIP), Medical Research “Mercedes y Martín named HLTF which has the characteris- are now routinely done in labs, but at Ferreyra” INIMEC-CONICET, Córdoba, tics of a “transcription factor” (a protein the time, there was no kit for it and the Argentina that controls the expression of one or amount of work involved was quite more genes). impressive.” Dr. n 2007, DUX4 emerged as a candidate Another sci- Belayew spent I gene for FSHD. DUX4 is from a family entist in Dr. an entire night of regulatory and developmental genes Belayew’s labo- on her home and stands for DoUble homeoboX gene ratory, Hao computer 4. DUX4 has been found to reside inside Ding, Ph.D., a searching Inter- of each repeat of the D4Z4 repeat array. physician from net databases When an individual has ten or fewer China, was for sequences D4Z4 repeats he or she can have FSHD. working on his similar to DUX4 research has an interesting histo- Ph.D. thesis approximately Dr. Belayew and researchers in her lab, ry going back to the mid-late 1990s and under Dr. one hundred Frédérique Coppée (front) and Sébastien Charron, the FSH Society has been instrumental Belayew’s University of Mons-Hainaut, Mons, Belgium DNA fragments in advocating and funding research on supervision. Dr. that bind the DUX4 in five different countries. The Belayew explains, “Dr. Ding has an HLTF isolated by Dr. Ding. “It was very scientists working on DUX4 have perse- amazing work ethic. He was always test- frustrating because at the time Internet vered despite difficulty in obtaining ing out new ideas in the off hours when connections were very slow, and only a funding and getting papers accepted for the lab was nearly empty. One Monday small part of the human genome was publication. The FSH Society facilitated morning, at a research meeting, Dr. Ding known.” However, at last she identified a the connections leading to progress in explained that he had set up an experi- sequence that looked very much like a understanding the role of DUX4 in ment to go “fishing” for all the genes continued on page 4 facioscapulohumeral muscular dystro- phy by funding research grants and trav- el grants and enabling researchers to Patients and Families To Gather connect to one another through our In Iowa City/Coralville: July 27, 2008 website and our annual research sym- posia. The FSH Society’s staff and scien- he 2008 International Patient Iowa City and Coralville are within tific advisory board also work actively T Conference will be held at the easy driving distance of major Mid- with researchers to help with network- Marriott Hotel and Conference Center, western cities and served by airports in ing and connections. Coralville, Iowa, on the banks of the Cedar Rapids, the Quad Cities, and The story of Alexandra Belayew, Iowa River, one mile from University of Des Moines (see map page 2). These Ph.D., begins in Belgium. Prior to devel- Iowa Hospitals and Clinics and min- eastern Iowa communities, energized oping an interest in muscular dystrophy utes from downtown Iowa City. by academic and artistic prowess, and research, Dr. Belayew was heading a Iowa City is home to the University outdoor recreation, are in close prox- small group in the laboratory of Prof. of Iowa Hospitals and Clinics and the imity to charming farm communities Désiré Collen, a renowned scientist and UI Roy J. and Lucille A. Carver Col- that document our rural heritage. Many medical doctor at the Catholic Universi- lege of Medicine, a comprehensive vacation, sightseeing, and other leisure ty of Leuven in Belgium. Prof. Collen academic medical center that is distin- opportunities are available. was famous for his discovery of a pro- guished internationally. For 16 years, The conference will begin with reg- tein named tPA (tissue plasminogen the UI Hospitals and Clinics have been istration and a buffet breakfast at 8:00 activator) used to re-establish blood recognized as one of “America’s Best” a.m. on Sunday, July 27, and conclude flow in blocked arteries. Hundreds of by U.S. News and World Report. by 5:30 p.m. continued on page 2 2 FSH WATCH NEWSLETTER I WINTER 2008 Board of Directors Patients and Families To Gather Daniel P. Perez, President & CEO William R. Lewis, Sr., M.D., Chairman In Iowa City/Coralville: July 27, 2008 Howard L. Chabner, J.D., Vice-Chairman Carol A. Perez, M.Ed.., Secretary continued from front page William Michael, C.P.A., Treasurer E. Ann Biggs-Williams Informal reception and greeting will be tions at 1 (800) 228-9290. The hotel is Robert H. Brown Jr., M.D./D.Phil. * available on Saturday from 4:00 p.m. holding a block of rooms at $99.00 per James A. Chin, Sr. to 7:00 p.m. at the hotel; a continental night (single, double, triple, or quad), JoAnn P. Forance breakfast and send off will be avail- plus taxes and parking. This is a new David J. Glass, M.D. able on Monday, July 28, 8:00 a.m. to facility and is fully ADA-compliant with William E. Hall Jr., J.D. * 10:00 a.m. accessible and equipped guest rooms. William S. Herzberg, M.D. Recreation facilities including the pool Louis M. Kunkel, Ph.D. Lectures and panel discussions are C. Larry Laurello, P.E. planned to bring the most current are accessible. For the best selection Richard A. Lefebvre, M.B.A. advances in FSHD research to the of rooms, please make your reserva- William R. Lewis III, M.D. FSHD community of patients, families tions early. The closing date for the Theodore L. Munsat, M.D. * and scientists. There will be formal Society’s block of rooms is June 27.! Paul Schultz, M.D. * and informal forums to advance knowl- Robert F. Smith, Esq. edge, understanding and provide sup- Z. John Stekly, Sc.D. • Christopher Stenmon, C.P.A. port and networking. The reception, Minneapolis / continental breakfasts and a luncheon St. Paul MINNESOTA Scientific Advisory Board are included in the registration fee: WISCONSIN David E. Housman, Ph.D., Chairman Milwaukee • $80 each for adults, $40 each for chil- IOWA Michael R. Altherr, Ph.D. dren ages 12-18, and children under Robert H. Brown Jr., M.D./D.Phil. Chicago• 12 years of age, free. More details will Iowa Rune Frants, Ph.D. City be made available on the Society’s Louis M. Kunkel, Ph.D. Omaha • William R. Lewis, M.D. website as planning proceeds. NEBRASKA William R. Lewis III, M.D. For hotel reservations, go to MISSOURI ILLINOIS Katherine D. Mathews, M.D. KANSAS www.fshsociety.org and click on the • Theodore L. Munsat, M.D. * Kansas link for the 2008 Patient Conference/ City St. Louis• George W. A. M. Padberg, M.D. Coralville Marriott Hotel and Confer- Paul Schultz, M.D. * Iowa City/Coralville is within Kathryn Wagner, M.D., Ph.D. ence Center, or go to the hotel’s web- www.marriott.com/cidic 250 miles of Minneapolis, * Board Member Emeritus site at . The Society’s group code is fshfsha. For Milwaukee, Chicago, St. Louis, Executive & Development Office telephone inquiries, call (319) 688- Kansas City and Omaha Nancy Van Zant, Executive Director 4000 (Coralville), or Marriott reserva- FSH Society, Inc. c/o BBRI R353 64 Grove Street SAVETHEDATE Watertown, MA 02472 USA (617) 658-7878 AGathering ofFSH SocietyMembers (617) 658-7879 Fax [email protected] NewYorkBotanicalGarden Patient Resources Office April22,2008 Carol A. Perez, M.Ed. 6:00p.m.Cocktails • Dinnertofollow. FSH Society, Inc. 3 Westwood Road AneveningformembersoftheFSHSocietyinthetri-statearea,andbeyond, Lexington, MA 02420 USA (781) 860-0501 tomeeteachotherandtohearabriefprogramaboutresearch (781) 860-0599 Fax andclinicaladvancesinFSHMuscularDystrophy. [email protected] • Menu and evening generouslyhosted byAbigail and RobertKirsch Research Programs Office • Daniel Paul Perez Therewillbenosolicitationoffundsatthisevent. FSH Society, Inc. Attendancelimitedtoindividuals 11 Elmbrook Circle withcurrentmembership,2007or2008. Bedford, MA 01730 USA • (781) 275-7781 Invitation to follow. Formoreinformation,ortoreserveaplacenow, (781) 275-7789 Fax pleasecall(617)[email protected]. [email protected] • TheFSHSocietyisa501(c)(3)organization www.fshsociety.org dedicatedtosolvingfacioscapulohumeralmusculardystrophy. FSH WATCH NEWSLETTER I WINTER 2008 3 Katherine Mathews, M.D., to Offer Clinic A Letter from the Chairman, for Infantile FSHD, Board of Directors, FSH Society July 28, 2008 February 2008 Christopher Sten- atherine Mathews, mon, and Bill and K M.D., Pediatric Dear Friends, Judy Herzberg for Neurologist, and other In November, I wrote to you to the many generous staff at the University invite you to participate in the Chal- gifts they have of Iowa Hospitals and lenge of Hope, my family’s challenge solicited from their Clinic will offer a clinic to FSH Society members and to the friends and family for infantile FSHD FSHD community. I am delighted that on behalf of the patients on July 28, you have made so many gifts, often FSH Society in 2008. To express inter- new and larger gifts, to match this 2007. William R. est in the clinic, please Katherine challenge. All our gifts have Lewis, Sr., M.D. email Jenny Lazzaro at Mathews, M.D. As you may recall, we offered to advanced patient jennifer.lazzaro@ Reprinted with per- match your gift and the gifts of others services, education and outreach, advo- fshsociety.org.
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