Case Western Reserve University Visible at Celebration for Discovery of Cystic Fibrosis Gene

Posted: October 9, 2014 at 10:46 pm

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Newswise The discovery of the cystic fibrosis (CF) gene was hailed as a trailblazing breakthrough in 1989. Now, on the 25th anniversary of the discovery of cystic fibrosis transmembrane conductance (CFTR) gene, more than two-dozen CF innovators and clinicians, including five on the Case Western Reserve University campus, took this special occasion to reflect on the discovery and the status of research and treatment during videotaped interviews.

Much of these videotaped interviews with physicians, scientists, patients and families will appear Friday, Oct. 10, at a special satellite symposium, Ahead of the Curve: CFTR at 25, during the 28th Annual North American Cystic Fibrosis Conference in Atlanta.

The satellite symposium will be presented by continuing education firm DKBmed, LLC, in collaboration with Johns Hopkins University School of Medicine and The Institute for Johns Hopkins Nursing. All two-dozen interviews conducted this past summer for CFTR at 25 may be accessed online in late October at aotc-cf.org/cftr25 or on YouTubes eCysticFibrosis Review Channel.

Two of the interviewed Case Western Reserve School of Medicine faculty members played pioneering roles in cystic fibrosis research during the past 25 years. Pamela B. Davis, MD, PhD, dean and senior vice president for medical affairs, served as director of the Adult Cystic Fibrosis Program at University Hospitals Case Medical Center before assuming duties as dean. Mitchell Drumm, PhD, professor of pediatrics and genetics and genome sciences, participated in the CFTR gene discovery process during his graduate studies at the University of Michigan.

Others interviewed from the Case Western Reserve campus represented the perspective of clinicians actively involved in a wide spectrum of CF patient care and research: James Chmiel, MD, associate professor of pediatric pulmonology and clinician-researcher of CF inflammation at the School of Medicine and clinical director of pediatric pulmonology at UH Rainbow Babies & Children's Hospital; and Colette Bucur, RN, nurse practitioner and research coordinator of CF clinical trials, and Terri Schindler, RD, nutritionist in CF care, both of UH Rainbow Babies & Children's Hospital.

Additional interviews feature policymakers, leading educators and renowned researchers and clinicians from Johns Hopkins University, Stanford University, University of North Carolina, University of California San Diego, University of Wisconsin, National Institutes of Health (NIH), Cystic Fibrosis Foundation and Hebrew University of Jerusalem. Course Director Peter J. Mogayzel Jr., MD, PhD, director of Johns Hopkins Cystic Fibrosis Center, selected interviewees based on their knowledge and experience to address CF research and advances in care. The interviewed CF patients and their families also put a human face on this illness by sharing their experiences.

CF is an illness where thick and sticky mucus builds up in airways and blocks digestive track passages. The CFTR gene controls the movement of salt and water in and out of the bodys cells. A faulty, or mutated, CFTR gene does not make the protein necessary to control the salt and water transport function, which triggers the excess mucus leading to cystic fibrosis.

In the 1950s, children with the illness rarely lived long enough to attend elementary school. Now, thanks to advances in treatment, the median survival is about 37 years after diagnosis. There have been reports, however, of CF patients living into their 70s.

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Case Western Reserve University Visible at Celebration for Discovery of Cystic Fibrosis Gene


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