Rare Lung Disease

HomePatientsLung Disease Week at the ATS2013 ▶ Rare Lung Disease
Rare Lung Disease Week


Welcome Message

Welcome to this week's ATS focus on rare lung diseases. Rare diseases are receiving increased interest in all fields of medicine because they help discover new genomic pathways that influence more common diseases. This week's partner is the Hermansky-Pudlak Syndrome Network (HPS Network). To date, 9 genes have been discovered in families with this syndrome (HPS-1 to HPS-9) and yet a cure remains elusive. Therefore, the missions of education, improving diagnostic delay, access to knowledgeable physicians, and accelerated research that are so important to the HPS Network are common themes with all of the rare disease communities.

Cumulatively, rare diseases are estimated to be present in 10 percent of all individuals. These 6,000-8,000 diseases have a genetic cause 80 percent of the time. With the pressure to control the costs of U.S. health care, the ability for clinicians to test for and diagnose rare diseases will emerge as a problem. In response to this concern, the National Institute of Health is advancing the concept of an Undiagnosed Diseases Network that is modeled on a successful program within the intramural branches. Should everyone with an undiagnosed possible rare disease get a peripheral blood mononuclear cell gene array? In our own pulmonary community, are we making enough progress understanding the genomic phenotypes of our common airways, vascular and parenchymal lung diseases?

Please take this opportunity to become knowledgeable about Hermansky-Pudlak syndrome. The tireless energy of the HPS Network staff and volunteers has made this disease known in the interstitial lung disease community. There is much online that allows individuals with albinism and lung disease to “discover” their own diagnosis. However, like most rare diseases there are many details that are important to understand. Are we adequately searching for partial cutaneous albinism and platelet disorders in our idiopathic pulmonary fibrosis (IPF) patients? The next step is the translation of what our pulmonary community knows to the primary care community. Thank you for visiting this week's Public Advisory Roundtable focus.


Charlie Strange, MD
ATS Assembly on Clinical Problems
Member, ATS Board of Directors


Donna Appell, RN
Founder, Hermansky-Pudlak
Syndrome Network
Immediate Past Chair, ATS PAR

ATS Rare Lung Disease Partner


The Hermansky-Pudlak Syndrome Network is a not-for-profit organization founded in 1993 and incorporated in 1995. It serves patients and their families struggling with HPS from around the world.  The HPS Network is a major resource for education and support for both patients and professionals.