Methods of Educating Physicians About Uncommon Genetic Disorders: The Stickler Syndrome Awareness Project
Capstone Project Committee: Nancy Callanan, MS, CGC, Jan Helfer, Pamela Reitnauer, MD, PhD, MPH
Stickler syndrome is an autosomal recessive connective tissues disorder. Due to the somewhat recent description and ongoing gene identification, as well as phenotypic variability and low prevalence, Stickler syndrome commonly goes undiagnosed. Without a diagnosis, individuals may be unable to utilize or acquire necessary services and treatments. Stickler Involved People (SIP) is an advocacy organization for Stickler syndrome that has recently expanded their objectives to include physician education. The primary objective for this project is to develop a strategy to inform primary care physicians of features and symptoms of a rare genetic disorder, like Stickler syndrome, that advocacy organizations, like SIP, may use to help plan and implement effective methods of physician education. A second objective is to develop a plan for dissemination of educational information. Through literature review and discussions with representatives from advocacy organizations similar to SIP, recommendations for strategies and methods of educating physicians have been formulated. The information acquired and recommendations that are offered may be used to aid support organizations in improving their strategies of informing healthcare professionals about genetic disorders.
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