Rare Lung Disease

HomePatientsLung Disease Week at the ATS2011 ▶ Rare Lung Disease
Rare Lung Disease Week



Welcome Message

The ATS is honored to be part of Rare Lung Diseases Week.  This is a unique opportunity to bring much needed awareness to rare lung diseases, such as alpha-1 antitrypsin deficiency (AATD), lymphangioleimyomatosis (LAM), pulmonary alveolar proteinosis (PAP) and hereditary interstitial lung diseases, including Hermansky-Pudlak Syndrome.   

Rare lung diseases are defined as medical conditions that affect fewer than 200,000 individuals.  While the individual diseases are uncommon, the overall health burden is great.  As many as 25 million Americans are affected by rare diseases.  However, many patients with rare lung diseases are misdiagnosed or never diagnosed, illustrating the need for increased awareness and education.  Furthermore, few drug companies invest in research in rare diseases, because of the difficulty in recovering costs.  To help address this unmet need, the National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network (RDCRN), including the Rare Lung Diseases Consortium (Children's Hospital Medical Center, Cincinnati, OH) to facilitate research on rare diseases. Importantly, many of these diseases have provided a unique opportunity to understand the genetics and pathogenesis of lung diseases that have changed the way we think about other more common disorders. Thus, new insights into rare lung disease pathogenesis and treatments have the potential to impact a much larger pool of patients.   

The ATS and its partner societies in PAR fully support increased federal research, education, and development of new resources to support those afflicted with rare lung diseases.  It is only through the continued collaboration of physicians, scientists and patient support groups that we will advance our understanding of mechanisms of disease and enable development of effective therapies.


Lynn M. Schnapp, MD            
Chair, ATS Assembly on Respiratory,
Cell and Molecular Biology
Member, ATS Board of Directors


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

ATS Rare Lung Disease PARtner  — Hermansky Pudlak Syndrome Network

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."