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University of Washington School of Medicine
Online News
Vol. 11, No. 25
June 22, 2007
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To view an archived version of Online News on the UW
Medicine Web site, visit:
http://www.uwmedicine.org/Global/NewsAndEvents/somnews/index.htm
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This week’s news:
* UW and Children's Hospital researchers uncover genetic mutation responsible for Joubert syndrome
* WWAMI Family Medicine Residency Network and UW-led dental program honored by Society of Teachers of Family Medicine
* John V.L. Sheffield receives Department of Medicine's Marvin Turck Outstanding Teaching Award
* Kathryn Waddell appointed executive director of UW Health Sciences Administration
* Tina Mankowski named associate vice president of medical affairs for News and Community Relations and Marketing
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UW AND CHILDREN'S RESEARCHERS FIND GENE FOR JOUBERT SYNDROME
An international study by researchers at Seattle Children’s Hospital Research Institute, the UW School of Medicine, and Radboud University in Nijmegen, Netherlands, has identified a new genetic cause for Joubert syndrome. The syndrome is an inherited condition that affects development of the cerebellum and brainstem, the structures in the brain that coordinate movements and regulate basic functions such as breathing, swallowing, heart rate and consciousness.
The study, published in the June 10 issue of Nature Genetics, confirms key information about the genetic changes that cause Joubert syndrome. It also links the condition to cellular structures called cilia, conclusively placing the syndrome in a class of recently identified ciliopathic conditions. Though the disease is statistically rare and four other genetic markers have been previously identified, researchers believe these findings are important.
Joubert syndrome can result in developmental delay, poor physical coordination, irregular breathing, visual impairment, kidney failure and extra digits. The syndrome's diverse symptoms make it difficult to diagnose. The discovery of an associated gene mutation will allow for more conclusive diagnosis, and may also help identify carriers who could unknowingly pass the condition on to their children.
The research also connects the syndrome to the primary cilia, the tiny projections on cell surfaces that allow the inside of cells to communicate with their outside environment. Researchers believe that defects in cilia function lead to newly identified ciliopathic conditions, such as Leber congenital amaurosis, Senior-Loken syndrome, and nephronophthisis, the most common genetic cause of kidney failure in children.
Dan Doherty, UW assistant professor of pediatrics and researcher in the Division of Genetics and Developmental Medicine at Seattle Children's Hospital Research Institute, was one of the two lead authors of the study. The project included several other researchers from the UW and Children's Hospital, as well as scientists at institutions in the Netherlands, Germany and Turkey.
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UW PROGRAMS HONORED BY SOCIETY OF TEACHERS OF FAMILY MEDICINE
Two UW-affiliated programs have been recognized for excellence by the Society of Teachers of Family Medicine. The WWAMI Family Medicine Residency Network received the society's Advocate Award for the creation of an advocacy network for legislative issues relevant to residency programs in the five-state WWAMI region. A program called Smiles for Life: A National Oral Health Curriculum for Family Medicine, which was created by UW faculty and colleagues at other institutions, has received the society's Innovative Program Award.
The WWAMI Family Medicine Residency Network includes UW training sites throughout Washington, Wyoming, Alaska, Montana, and Idaho. Network Director Nancy Stevens, UW professor of family medicine, and former Network President Harold Johnston, UW clinical associate professor of family medicine, worked with residency directors throughout the WWAMI region to develop a legislative advocacy network. The network formed a structured legislative committee to guide advocacy efforts, and collaborated with community health centers in the region to establish a new model for family medicine residency training. In giving the WWAMI network the award, the society recognized the advocacy project as a model for other groups and organizations.
The Smiles for Life program was created by the Society of Teachers of Family Medicine's Group on Oral Health. It represents a partnership of five institutions around the country, including the UW, and provides a comprehensive oral health curriculum for residency or medical education programs. The project leaders included Russell Maier, UW clinical associate professor of family medicine and director of the Central Washington Family Medicine Residency in Spokane, Wash., and Stevens, the WWAMI network director.
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JOHN V.L. SHEFFIELD RECEIVES DEPARTMENT OF MEDICINE TEACHING AWARD
John V.L. Sheffield, professor of medicine in the Division of General Internal Medicine, has received the Department of Medicine's Marvin Turck Outstanding Teaching Award in honor of his excellence in teaching and patient care.
Sheffield is associate chief of medicine at Harborview Medical Center, and an attending physician in the Harborview Adult Medicine Clinic. He has received the UW School of Medicine's Distinguished Teacher Award four times, making him a Teacher Superior in Perpetuity. He has also received the Paul Beeson Teaching Award and Oustanding Attending of the Year Award from the Department of Medicine. He may be reached at jvls@u.washington.edu
The award is named for longtime faculty member Marvin Turck, professor of medicine in the Division of Allergy and Infectious Diseases. Turck has been recognized many times for his teaching, clinical work, and scholarship.
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WADDELL APPOINTED EXECUTIVE DIRECTOR OF HEALTH SCIENCES ADMINSTRATION
UW President Mark Emmert has appointed Kathryn Waddell as executive director of Health Sciences Administration, effective August 1. Waddell will assume some responsibilities previously managed by John Coulter, who retires at the end of July and also currently serves as associate vice president for medical affairs.
In her new role, Waddell will report to the Office of the President and will be responsible for the administrative affairs of the Health Sciences Center, including capital planning, academic support services, Office of Animal Welfare oversight, risk management, and Health Sciences community relations. Waddell will also handle university-wide activities of Environmental Health and Safety, employee occupational health, and student health. In addition, she will oversee business, finance and personnel activities of the Health Sciences interdisciplinary programs, including the Alcohol and Drug Abuse Institute, the Center on Human Development and Disability, the Institute on Aging, and the Washington National Primate Research Center.
Waddell is a clinical assistant professor of rehabilitation medicine and serves as director of Finance and Administration in Health Sciences Administration -- a position she has held since 2000. In this position, she has staffing oversight of 600 full-time employees and manages a budget of about $40 million. Prior to serving as director in this division, Waddell was a patient care services director at UW Medical Center. She began her career at UWMC in 1992 as manager of Occupational Therapy and Therapeutic Recreation.
Earlier in her career, Waddell was a clinical instructor at the University of Southern California. She holds a bachelor's degree from Houghton College, in Houghton, N.Y., and earned a Master of Science in Occupational Therapy from Boston University. She may be reached at waddell@u.washington.edu
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MANKOWSKI NAMED ASSOCIATE VICE PRESIDENT-MEDICAL AFFAIRS
Tina Mankowski, director of Health Sciences/UW Medicine News and Community Relations, has been named associate vice president-medical affairs for News and Community Relations and Marketing. She will remain director of Health Sciences News and Community Relations.
As associate vice president, Mankowski will report to the new position of UW Medicine clinical operations officer/vice president for medical affairs, and as director of Health Sciences News and Community Relations she will report to the executive director, Health Sciences Administration. Mankowski will have oversight over the news, community relations and marketing activities for UWMC, Harborview, the UW Neighborhood Clinics and the School of Medicine.
Prior to joining News and Community Relations, Mankowski served as director of Harborview Medical Center's Community Relations office for 20 years. She graduated from the UW with a degree in communications.
She may be reached at ochs@u.washington.edu
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Justin Reedy, editor:
206-685-0382, jreedy@u.washington.edu
Online News is copyright 2007. All rights, including electronic
redistribution, are reserved.
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