Discovery of Genetic Mutations That Cause Deadly Lung Disease Applauded by Patient Organization

A team of researchers, led by physicians and scientists at Intermountain Healthcare's Intermountain Medical Center and ARUP Laboratories, has made a medical breakthrough by discovering genetic mutations that cause a rare and deadly lung disease. The Pulmonary Hypertension Association applauds their work.

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'My hope is to ultimately find a treatment for this disorder and for the people affected with PCH and diseases like it. As their doctor, I see the suffering and I want to help.' -Greg Elliott, MD, MACP

Silver Spring, MD (PRWEB) February 11, 2014

A team of researchers, led by physicians and scientists at Intermountain Healthcare's Intermountain Medical Center and ARUP Laboratories, has made a medical breakthrough by discovering genetic mutations that cause a rare and deadly lung disease.

The disease, pulmonary capillary hemangiomatosis or PCH, is a rare cause of pulmonary hypertension, which occurs predominantly in young adults. PCH affects less than one in a million people, and has been extremely difficult and expensive to diagnose, as well as challenging to treat.

This genetic discovery offers new hope.

“This is a significant finding. This discovery should advance our understanding of this rare pulmonary vascular disorder and other related disorders,” said Greg Elliott, MD, MACP, senior investigator of the study and medical director of the Pulmonary Hypertension Center at Intermountain Medical Center in Murray, Utah, and professor of medicine at the University of Utah School of Medicine.

Dr. Elliott is also an active member of the Pulmonary Hypertension Association (PHA), and former chair of PHA’s Scientific Leadership Council. He, along with many other members of the research team, are committed to making the fight to cure pulmonary hypertension and related conditions a collaboration among medical professionals, patients and their families.

“My hope is to ultimately find a treatment for this disorder and for the people affected with PCH and diseases like it. As their doctor, I see the suffering and I want to help,” said Dr. Elliott.

Dr. Elliott was the first to envision a “research room” at PHA’s biennial International PH Conference and Scientific Sessions in 1994. PHA’s Conference now hosts teams from a dozen institutions who use the research room to collect patient blood samples and family histories. The gathering of 1,500 pulmonary hypertension community members offers an opportunity for patients to become active collaborators in the research that they hope will save their lives.

“PHA congratulates Dr. Elliott and his team at Intermountain,” said Rino Aldrighetti, President of the Pulmonary Hypertension Association. “The growth of research in pulmonary arterial hypertension and during the past two decades has led us to the point where this disease has as many or more treatments than all but three of the 7,000 rare diseases – progress that would have been impossible without the dedication of Dr. Elliott and others. We hope this discovery represents a similar breakthrough for PCH.”

About the Pulmonary Hypertension Association
PHA, headquartered in Silver Spring, Md., is the country's leading pulmonary hypertension organization. PHA is unique in its approach of connecting the entire PH community of patients, families and medical professionals. Its mission is to find ways to prevent and cure pulmonary hypertension and provide hope for the community through support, education, research, advocacy and awareness. PHA provides free access to information about pulmonary hypertension on its website, facilitates over 240 support groups around the nation, and delivers continuing education for medical professionals. To learn more about PHA, visit: http://www.PHAssociation.org.


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