International Conference May 15 - May 20 DENVER COLORADO Rare Lung Disease Guide www.thoracic.org May 2015 Dear Colleagues, The scope of the American Thoracic Society is amazingly broad - covering pulmonary, critical care and sleep medicine. Our challenge each year as we put the International Conference program together is that some clinical topics that may be of central importance to our members, conference attendees and patients may not be prominently featured in the program each year. This is the case with rare lung diseases. With each challenge though, comes opportunity. Because of the wealth of scientific and clinical information presented at ATS 2014, these diseases, though uncommon, will be the focus of many presentations during the next several days. The purpose of this roadmap is to help you find these presentations. Irina Petrache, MD In his chapter on rare lung diseases in Breathing in America: Diseases, Progress, and Hope (2010), Francis X. McCormack, MD, noted that research on uncommon Indiana University respiratory diseases has produced some of the most exciting discoveries in pulmonary medicine. “Insights gained from uncommon lung diseases often shed light on more common ones.” ATS 2015 The definition of a rare disease by its prevalence varies by country. In the European Union, for instance, it is defined as a disease that affects fewer than 1 in 2,000, International while in the United States it is a disease that affects fewer than 1 in 200,000, at any given moment. The list of diseases included here was drawn from the NIH Center Conference Chair for Advancing Translational Sciences Office of Rare Lung Disease Research,* and from the work of a small group of ATS Members who studied the ATS 2015 Abstracts. Thanks to Dr. McCormack, Dr. Lisa Young, Dr. Jonathan Kropski, Dr. William Gower, Dr. Nishant Gupta, and Mr. Jack Kelly for their assistance with this resource. Despite pathogenic or clinical differences, rare diseases, including those in respiratory medicine, share common features. Many are serious, life-long, and debilitating. They tend to be misdiagnosed, at least initially and often for many years. Once identified, few have effective treatments. And when therapies are available, rare diseases are usually expensive to treat. Spurred by these challenges, the American Thoracic Society is particularly committed to helping patients with rare lung diseases. Many public interest organizations belonging to the ATS Public Advisory Roundtable represent patients with uncommon pulmonary diseases and make valuable contributions to our organization. Be sure to visit with them near ATS Center in the Exhibit Hall. With this guide, we invite health care professionals and patients interested in rare lung diseases to learn about the discoveries being presented during ATS 2015 that may change how we prevent or treat these diseases in the future and how this new knowledge may transform care for all respiratory patients. Sincerely, Irina Petrache, MD *http://rarediseases.info.nih.gov/gard/diseases-by-category/21/lung-diseases About This Guide: The list of search terms was developed using the American Thoracic Society’s Breathing in America and the Office of Rare Disease Research, National Institutes of Health Center for Advancing Translational Sciences, as content references. Due to the volume of content, Cystic Fibrosis and Idiopathic Pulmonary Fibrosis are not referenced in this guide. To look for additional search terms or content at ATS 2015 or the previous four years’ International Conference, visit http://conference.thoracic.org/2015/program/past-abstractprogram-search/. The following search terms from reference sites were used and returned no match for ATS 2014: Acropectorovertebral Dysplasia F Form Geroderma Osteodysplasticum Peroxisome Biogenesis Disorders Arterial Tortuosity Syndrome Glycosylphosphatidylinositol Deficiency Pulmonary Sequestration Cantu Syndrome Goodpasture Syndrome Pulmonary Venoocclusive Disease Coal Worker’s Pneumoconiosis Intrahepatic Cholestasis of Pregnancy Recurrent Respiratory Papillomatosis Congenital Lobar Emphysema Juvenile Dermatomyositis Salla Dsease Congenital Pulmonary Alveolar Proteinosis Kabuki Syndrome SCARF Syndrome Congenital Pulmonary Lymphangiectasia Kaolin Pneumoconiosis Sharp Syndrome Cornelia de Lange Syndrome Kartagener Syndrome Short Rib-Polydactyly Syndrome Type 1 Costocoracoid Ligament Congenitally Short Laryngoonychocutaneous Syndrome Short Rib-Polydactyly Syndrome Type 2 Cutis Laxa, Autosomal Recessive Type 1 Lethal Congenital Contracture Syndrome 1 Short Rib-Polydactyly Syndrome Type 3 Donnai-Barrow Syndrome Limited Scleroderma Short Rib-Polydactyly Syndrome Type 4 Eisenmenger Syndrome Loeys-Dietz Syndrome Simpson-Golabi-Behmel Syndrome Elastin Mutations Lung Agenesis Sprengel Deformity Ellis-Van Creveld Syndrome Microphthalmia Syndromic 9 Systemic Onset Juvenile Idiopathic Arthritis Emanuel Syndrome Neiman Pick C (with lung involvement) Thoracic Dysplasia Hydrocephalus Syndrome Familial Cryoglobulinemia Niemann-Pick Disease Type B Thoracomelic Dysplasia Familial Hypersensitivity Pneumonitis Nocardiosis Thyroglossal Tract Cyst Familial Hypocalciuric Hypercalcemia Type 2 Novak Syndrome Tracheobronchopathia Osteoplastica Familial Hypocalciuric Hypercalcemia Type 3 Occipital Horn Syndrome Wilson-Mikity Syndrome Feingold Syndrome Orofaciodigital Syndrome 4 Wolf-Hirschhorn Syndrome Fetal Akinesia Deformation Sequence PAGOD Syndrome Wrinkly Skin Syndrome Froster-Huch Syndrome Pallister-Killian Mosaic Syndrome Young Syndrome Game Friedman Paradice Syndrome Pentalogy of Cantrell 1 Rare Disease Term Date/Day Board Number / Time Abstract Number and Title Session ID and Title Location ABCA3 Mutations Monday, 706 2:15 - 4:15 PM A3851 Interminate Differentiation of Peripheral Respiratory Epithelial Cells B109: Alveolar Epitelial Cell Plasticity in Injury and Mile High Ballroom 1 A-B (Lower May 18th Poster Viewing 2:15 - 3:00 PM in Idiopathic Pulmonary Fibrosis (IPF) Fibrosis Level); CCC Discussion 3:00 - 4:15 PM Wednesday, 117 9:30 - 11:30 AM A5469 Multiplexed Direct Genomic Selection to Identify Genetic Variation D23: Pediatric Rare Diseases and Lung Development Room 102/104/106 (Street May 20th Poster Viewing 9:30 - 10:15 AM in Surfactant-Associated Genes Among Infants and Children with Level); CCC Discussion 10:15 - 11:30 AM Respiratory Distress Syndrome and Childhood Interstital Lung Disease (chILD) Wednesday, 101 9:30 - 11:30 AM A5453 Whole Exome Sequencing Identifies Chemokine Receptor 2 (CCR2) D23: Pediatric Rare Diseases and Lung Development Room 102/104/106 (Street May 20th Poster Viewing 9:30 - 10:15 AM as a Novel Gene for Children’s Interstital Lung Disease (chILD) Level); CCC Discussion 10:15 - 11:30 AM Wednesday, Oral 2:45 PM A6088 Building the Conducting Airways and Alveolar Gas Exchange Region D96: Lung Development and Neonatal Lung Disease Room 201/203 (Street Level); May 20th 1:30 - 3:30 PM of the Primate Lung CCC Acute Eosinophilic Pneumonia Sunday, P761 9:30 AM - 4:15 PM A1396 Smoking Related Small Airway Involvement Presenting as Diffuse A35: I've Got a Feeling We're Going to Solve This One: Area G; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM Multicystic Lung Disease: A New Lymphangioleiomyomatosis Mimic Insights Into Lymphangioleiomyomatosis CCC Sunday, P351 9:30 AM - 4:15 PM A1496 Acute Eosinophilic Pneumonia with Respiratory Failure Induced by A38: Tell Me What You See: Atypical Presentations Area D; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM ‘Bonzai’ (Synthetic Cannabinoid) Inhalation of ILD CCC Sunday, P359 9:30 AM - 4:15 PM A1504 Acute Fibrinous and Organizing Pneumonia – Is Smoking a A38: Tell Me What You See: Atypical Presentations Area D; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM Predisposing Factor? of ILD CCC Sunday, P331 9:30 AM - 4:15 PM A1476 Idiopathic Chronic Eosinophilic Pneumonia – A Diagnostic A38: Tell Me What You See: Atypical Presentations Area D; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM Conundrum, of ILD CCC Sunday, P336 9:30 AM - 4:15 PM A1481 If It Looks Like Asthma and It Sounds Like Asthma, It Might Be A38: Tell Me What You See: Atypical Presentations Area D; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM Chronic Eosinophilic Pneumonia of ILD CCC Sunday, P843 9:30 AM - 4:15 PM A1533 Daptomycin-Induced Acute Eosinophilic Pneumonia A40: A Hard Day's Night: Drug Induced Lung Disease Area G; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM CCC Sunday, P842 9:30 AM - 4:15 PM A1532 Meropenem: The New Culprit in Eosinophilic Lung Diseases A40: A Hard Day's Night: Drug Induced Lung Disease Area G; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM CCC 2 Rare Disease Term Date/Day Board Number / Time Abstract Number and Title Session ID and Title Location Sunday, P859 9:30 AM - 4:15 PM A1549 Progesterone Induced Eosinophilic Pneumonia: A Rare Occurrence A40: A Hard Day's Night: Drug Induced Lung Disease Area G; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM CCC Sunday, P1120 9:30 AM - 4:15 PM A1661 Daptomycin a Pulmonary Foe A44: Infectious Disease Challenges in the ICU Area J; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM CCC Sunday, P748 9:30 AM - 4:15 PM A1899 A Case of Radiotherapy Associated Eosinophilic Pneumonia A49: Pulmonary Infections: Case Studies (Fungal and Area F; Hall A-B (Upper Level); May 17th Poster Viewing 11:30 AM - 1:15 PM Other)