Rare Lung Disease Guide
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American Thoracic Society International Conference Where today’s science meets tomorrow’s careTM Rare Lung Disease Guide May 18-May 23, 2018 San Diego, CA conference.thoracic.org May 2018 Dear Colleagues: The scope of the American Thoracic Society is amazingly broad – covering pulmonary, critical care, and sleep medicine. The challenge that we face 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. This is especially the case with some rare lung diseases. With each challenge though, comes opportunity. Because of the wealth of scientific and clinical information presented at ATS 2018, these diseases, though uncommon, will be the focus of many presentations over the next several days. The purpose of this Rare Lung Disease Guide is to help you more easily find these presentations. Jess Mandel, 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 respiratory diseases Chair, ATS International has produced some of the most exciting discoveries in pulmonary medicine, stating that “Insights gained from uncommon lung diseases often shed light on the more common ones.” Conference Committee The definition of a rare disease by its prevalence varies by country. A disease or disorder is defined as rare in the United States when it affects fewer than 200,000 Americans at any given time. This guide was compiled by a small group of ATS Members who studied the ATS 2018 abstracts – authors requested to be considered for inclusion. Many thanks to Dr. Frank McCormack, Dr. Lisa Young, Dr. Jonathan Kropski, Dr. Nishant Gupta, and Mr. Jack Kelly for their assistance with this resource. There are a number of patient advocacy groups that are exhibiting at ATS 2018. In addition to attending the presentations noted within, I encourage you to visit with them to learn more about these rare conditions. Groups listed in bold are members of the ATS Public Advisory Roundtable and can all be found in PAR Path, near the ATS Center in the Exhibit Hall. Learn more about this group and its many contributions to the Society and its work at: http://www.thoracic.org/patients/par/. Sincerely, Jess Mandel, MD Chair, ATS International Conference Committee Alpha-1 Foundation, Booth 536 LUNGevity Foundation, Booth 541 ARDS Foundation, Booth 439 Lymphangiomatosis and Gorham’s Disease Alliance (LGD), Booth 537 Asthma and Allergy Network, Booth 641 NTM Info & Research, Inc., Booth 539 Children’s Interstitial Lung Disease Foundation, Inc. (CHILD), Booth 740 Primary Ciliary Dyskinesia Foundation (PCD), Booth 636 Cystic Fibrosis Research, Inc., Booth 638 Pulmonary Fibrosis Foundation, Booth 722 Foundation for Sarcoidosis Research, Booth 639 Pulmonary Hypertension Association, Booth 1542 Hermansky-Pudlak Syndrome Network, Inc., Booth 637 Scleroderma Foundation, Booth 640 The LAM Foundation/Lymphangioleiomyomatosis, Booth 538 Tuberous Sclerosis Alliance, Booth 738 Lung Transplant Foundation, Booth 736 List Current as of 3/29/18 1 DISCLAIMER The purpose of this guide is to help the American Thoracic Society International Conference attendees navigate the viewing of posters for disorders that typically get less attention at the conference because of their rarity. During abstract submission, authors were instructed to check the box for consideration in the Rare Lung Disease Guide; the abstracts on that list were then further narrowed down. Conditions represented by less than 50 abstracts were considered for inclusion. We regret that not all rare diseases could be represented, and welcome suggestions for additional categories for listing in future editions. Please email us with any suggestions: [email protected]. Rare Disease Term Date/Day Board Number/Time Abstract Title Session ID and Title Location ACD-MPV (ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF THE PULMONARY VEINS) Tuesday, P1046 9:15 am-4:15 pm; A Novel Pathogenic Variant in FOXF1 Gene in an Infant with Severe C65: PEDIATRIC CASE REPORTS: NEONATAL LUNG Area J (Hall A-B2, Ground Level) May 22, 2018 Poster Viewing 11:15 am-1:00 pm Pulmonary Hypertension DISEASE San Diego Convention Center P1074 9:15 am-4:15 pm; Neonatal Severe Refractory Persistent Pulmonary Hypertension of C66: PEDIATRIC CASE REPORTS: CARDIOVASCULAR AND Area J (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm the Newborn (PPHN), Rare and Perplexing Diagnosis CRITICAL CARE DISEASE San Diego Convention Center ALPHA-1 ANTITRYPSIN DEFICIENCY Sunday, P1387 9:15 am-4:15 pm; Alpha-1 Antitrypsin Deficiency Is Not a Risk Factor for Cancer: A46: TOPICS IN ALPHA-1-ANTITRYPSIN DEFICIENCY Area L (Hall A-B2, Ground Level) May 20, 2018 Poster Viewing 11:15 am-1:00 pm A Cross-Sectional Study San Diego Convention Center P1396 9:15 am-4:15 pm; Alpha-1 Antitrypsin Therapy: A Satisfaction Survey of Individuals A46: TOPICS IN ALPHA-1-ANTITRYPSIN DEFICIENCY Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Self-Administering San Diego Convention Center P1397 9:15 am-4:15 pm; Alpha-1 Antitrypsin Deficiency Screening in Adults with A46: TOPICS IN ALPHA-1-ANTITRYPSIN DEFICIENCY Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Bronchiectasis Using Dry Blood Spot San Diego Convention Center P1388 9:15 am-4:15 pm; Results from a Large-Scale Screening Program for Alpha-1 A46: TOPICS IN ALPHA-1-ANTITRYPSIN DEFICIENCY Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Antitrypsin Deficiency: A History of Bronchiectasis Is Associated San Diego Convention Center with the ZZ Genotype P1391 9:15 am-4:15 pm; Smoking and SZ Alpha-1 Antitrypsin Deficiency (AATD): Exploring A46: TOPICS IN ALPHA-1-ANTITRYPSIN DEFICIENCY Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm the Relationship Between Smoke Exposure and Airflow Obstruction San Diego Convention Center P1393 9:15 am-4:15 pm; Analysis of Factors Associated with FEV1 Decline in Alpha-1 A46: TOPICS IN ALPHA-1-ANTITRYPSIN DEFICIENCY Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Antitrypsin Deficient Patients: A Comparison of Statistical San Diego Convention Center Approaches P1394 9:15 am-4:15 pm; Demographics and Patient Characteristics of the PI*MZ Allele A46: TOPICS IN ALPHA-1-ANTITRYPSIN DEFICIENCY Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Subgroup Identified in the US National Detection Program for Alpha- San Diego Convention Center 1-Antitrypsin Deficiency P1398 9:15 am-4:15 pm; Characteristics of Patients with Rare PI*F and PI*I Alleles from the A46: TOPICS IN ALPHA-1-ANTITRYPSIN DEFICIENCY Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm US National Detection Program for Alpha-1-Antitrypsin Deficiency San Diego Convention Center P42 9:15 am-4:15 pm; Modern Epidemiology of Alpha-1-Antitrypsin Deficiency (AATD) A55: ENVIRONMENTAL AND OCCUPATIONAL GENETICS, Area A (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm in the UK GENOMICS, AND EPIGENETICS San Diego Convention Center P41 9:15 am-4:15 pm; The Irish National Alpha-1 Antitrypsin Deficiency Targeted Detection A55: ENVIRONMENTAL AND OCCUPATIONAL GENETICS, Area A (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Programme GENOMICS, AND EPIGENETICS San Diego Convention Center 3 Rare Disease Term Date/Day Board Number/Time Abstract Title Session ID and Title Location Sunday, P456 9:15 am-4:15 pm; Effects Of Recombinant Alpha1-Antitrypsin IgG1 Fc-fusion Protein A75: COPD: TARGETS, MODELS, AND CLINICAL STUDIES Area E (Hall A-B2, Ground Level) May 20, 2018 Poster Viewing 11:15 am-1:00 pm (AAT-Fc) In Experimental Emphysema San Diego Convention Center P476 9:15 am-4:15 pm; Effect Of N-glycosylation Of Recombinant Alpha-1 Antitrypsin A75: COPD: TARGETS, MODELS, AND CLINICAL STUDIES Area E (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Therapeutic Protein Structure And Function: A Biophysical And San Diego Convention Center Molecular Dynamic Simulation Study Monday, P130 9:15 am-4:15 pm; Cardiovascular status and risk in Alpha 1 anti-trypsin Deficiency B54: CHRONIC DISORDERS: EVALUATION AND Area B (Hall A-B2, Ground Level) May 21, 2018 Poster Viewing 11:15 am-1:00 pm INTERVENTION San Diego Convention Center P1422 9:15 am-4:15 pm; Ventilation and Gas Transfer Distribution in Alpha-1 Antitrypsin B64: COPD: LUNG FUNCTION, IMAGING AND Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Deficiency After Replacement Therapy PATHOPHYSIOLOGY San Diego Convention Center P1440 9:15 am-4:15 pm; Proposal and Validation of a Minimal Clinically Important Difference B64: COPD: LUNG FUNCTION, IMAGING AND Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm (MCID) for Annual Pulmonary CT Density Decline PATHOPHYSIOLOGY San Diego Convention Center P1446 9:15 am-4:15 pm; Imaging Biomarkers of Emphysema in COPD and Alpha-1 B64: COPD: LUNG FUNCTION, IMAGING AND Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Antitrypsin Deficiency Patients using Accelerated 129Xe MRI PATHOPHYSIOLOGY San Diego Convention Center P1452 9:15 am-4:15 pm; Ventilation And Gas Transfer Measured By 129Xe MRI In Alpha-1 B64: COPD: LUNG FUNCTION, IMAGING AND Area L (Hall A-B2, Ground Level) Poster Viewing 11:15 am-1:00 pm Antitrypsin Heterozygotes: A Pilot Study PATHOPHYSIOLOGY San Diego Convention Center Oral Presentation 2:15 pm-4:15 pm Comprehensive Gene Resequencing