Rare Lung Disease

HomePatientsLung Disease Week at the ATS2012 ▶ Rare Lung Disease
Rare Lung Disease Week


Welcome Message

This week the ATS highlights rare lung diseases, which paradoxically are common. Although the individual diseases are rare (by definition affecting fewer than 1 in 200,000 people), there are a lot of them (between 5,000 and 8,000 different conditions), so a rare disease of one sort or another affects more than 20 million people in the United States (1).

Rare diseases pose interesting problems and may provide even more interesting solutions. The problems for patients result from rare diseases being diagnosed late and often not treated properly because healthcare professionals are unfamiliar with them; medications may not be available; and treatment may not be covered by insurance (in the United States). Rare diseases may require expensive, difficult-to-obtain, and long-term treatments.

But rare diseases contribute to solutions for humanity through research. They can teach us about body processes and diseases, especially if they are associated with a single, mutated gene, such as alpha-1 antitrypsin deficiency, surfactant protein disorders, and cystic fibrosis. In fact, some of the most exciting discoveries in pulmonary medicine have come from studying rare diseases. Realizing this, the National Institutes of Health fosters basic research on rare diseases.  The US government has engaged pharmaceutical firms to develop "orphan drugs" for rare diseases that would have too few prescriptions to make them profitable.  The American Thoracic Society along with its PAR partners such as the Hermansky-Pudlak Syndrome Network advocate for research, as well as educate, support, and organize patients and families in their quest for information about rare lung disease. Cooperation among many groups throughout the world is required for accumulating sufficient numbers of patients and integrating and promulgating the research.

In today's genomic age, discoveries and new understanding of disease mechanism happen almost daily. The information gained, moreover, is cumulative and is applied to many other conditions. Mechanistic new knowledge is accumulating at a dizzying pace and applications of this knowledge soon follow. The future has never been brighter for persons suffering with rare lung disease and they are contributing to a healthier tomorrow.


Dean Schraufnagel, MD          
ATS Immediate Past President, and
Member, ATS Board of Directors Executive Committee


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.


Disclaimer: "The ATS Lung Disease Week Web site is designed for educational purposes only. You should not rely on this information as a substitute for personal medical attention, a diagnosis from a physician, or direct medical care.  If you are concerned about your health or that of a family member, please consult your family's healthcare provider immediately. Do not wait for a response from our members, staff or partners."