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Genetic discovery good news/bad news for patients with pulmonary fibrosis

Genetic variant associated with MUC5B gene IDs major risk factor, points research in new direction

A new discovery in a deadly lung disease may change the direction of research while uncovering increased risk for many patients and families. The Coalition for Pulmonary Fibrosis (CPF) and the Pulmonary Fibrosis Foundation (PFF) applaud the efforts of scientists that led to the discovery of a genetic variation associated with the MUC5B gene which may increase the risk of developing Pulmonary Fibrosis (PF). The two patient organizations partner with National Jewish Health (NJH), which led the team of researchers in the study, on a genetic counseling line that provides medical information and support to patients and families.

Results of the MUC5B study are published in the April 21, 2011 issue of the New England Journal of Medicine.

Pulmonary Fibrosis (PF) is a devastating lung disease with no FDA approved treatment and no cure and scientists have worked for many years with more questions than answers in the quest to understand its cause.

Researchers found in study patients with the idiopathic form of the disease (idiopathic pulmonary fibrosis or IPF), the MUC5B genetic variant was present in 67 percent of patients, and in 59 percent of patients with a known familial origin to the disease (Familial Pulmonary Fibrosis or FPF) as well as in 19 percent of healthy controls.

The study findings regarding MUC5B and its role may alter the course of research into PF by focusing attention to mucus production in the lungs as well as the space around the air sacs in the lungs.

Scientists also found that carrying one copy of the gene increases risk for pulmonary fibrosis 6-9 times and carrying two copies of the variation increases risk by 20-22 times.

"We are excited about these important new findings as they will guide future investigations in new directions and more precisely identify patients at risk for developing this devastating disease" said Gregory Cosgrove, MD, Director of the Interstitial Lung Disease Program at National Jewish Health.

"Members of families like mine with Familial Pulmonary Fibrosis know we're at risk for the disease. This news demonstrates that our relative risk is dramatically higher," said Deirdre Roney, a member of the CPF board of directors who has lost eight members of her family to PF. "On the other hand, I am excited at learning the results of this important new finding in the genetics of Pulmonary Fibrosis. When you see a whole generation of your family perish from a disease, as I have, and you see that future facing all of your relatives, you desperately hope that discoveries around genetics will be found. Once found, the next hope is that gene therapy will be the family's salvation. My family is deeply grateful to the scientists whose commitment has led to the success of the MUC5B research."

The MUC5B gene is an important finding for all patients with PF, not just people at risk for the genetic version of the disease. The CPF ( and the PFF ( partner with National Jewish Health to provide a toll-free PF counseling line. To find out more and to ask questions, please contact the National Jewish Health Genetic Counseling Line at 1-800-423-8891, ext. 1097.

"This is a significant genetic finding in pulmonary fibrosis, one that may be used in the future as a tool to identify individuals at risk, used for earlier detection and more predictable prognosis. This finding increases the genetic knowledge for pulmonary fibrosis that physicians and researchers can utilize to develop new tests and target for therapies" said Janet Talbert, MS, CGC Director or the Familial Pulmonary Fibrosis Genetic Counseling Program at National Jewish Health.

About Pulmonary Fibrosis (PF)

Pulmonary Fibrosis (PF) is a lung disorder characterized by a progressive scarring – known as fibrosis -- and deterioration of the lungs, which slowly robs its victims of their ability to breathe. Approximately 128,000 Americans suffer from PF, and there is currently no known cause or cure. An estimated 48,000 new cases are diagnosed each year. PF is difficult to diagnose and an estimated two-thirds of patients die within five years of diagnosis. Sometimes PF can be linked to a particular cause, such as certain environmental exposures, chemotherapy or radiation therapy, residual infection, or autoimmune diseases such as scleroderma or rheumatoid arthritis. However, in many instances, no known cause can be established. When this is the case, it is called idiopathic pulmonary fibrosis (IPF).

About the FPF Genetic Counseling Line

The Coalition for Pulmonary Fibrosis, The Pulmonary Fibrosis Foundation and National Jewish Health Collaborate to Provide Genetic Counseling for Familial Pulmonary Fibrosis Patients Genetic Counseling. Medical Information and Support Program, the first of its kind in the U.S. Anyone with questions regarding genetics of PF can call the toll-free line to speak with a certified genetic counselor experienced with PF. Call 1-800-423-8891, ext. 1097.

About the Coalition for Pulmonary Fibrosis

The CPF is a 501C(3) nonprofit organization, founded in 2001 to accelerate research efforts leading to a cure for pulmonary fibrosis (PF), while educating, supporting, and advocating for the community of patients, families, and medical professionals fighting this disease. The CPF funds promising research into new approaches to treat and cure PF; provides patients and families with comprehensive education materials, resources, and hope; serves as a voice for national advocacy of PF issues; and works to improve awareness of PF in the medical community as well as the general public. The CPF's nonprofit partners include many of the most respected medical centers and healthcare organizations in the U.S. With more than 23,000 members nationwide, the CPF is the largest nonprofit organization in the U.S. dedicated to advocating for those with PF. For more information please visit or call (888) 222-8541.

About the Pulmonary Fibrosis Foundation

The mission of the Pulmonary Fibrosis Foundation is to help find a cure for idiopathic pulmonary fibrosis (IPF), advocate for the pulmonary fibrosis community both locally and in Washington D.C., promote disease awareness, and provide a compassionate environment for patients and their families. The PFF collaborates with physicians, organizations, patients, and caregivers worldwide. From December 1-3, 2011 the PFF will host its first international scientific conference, IPF Summit 2011: From Bench to Bedside, in Chicago. For more information visit or call 888-733-6741.

Teresa Barnes | EurekAlert!
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