ISSN 1096-7192 Volume 126 , Issue 2 , February 2019 Available online at www.sciencedirect.com Molecular Genetics and Metabolism 126 (2019) S1 Contents lists available at ScienceDirect Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme Program and Abstracts WORLDSymposium 2019* 15th Annual Research Meeting Hyatt Regency Orlando 9801 International Drive, Orlando, Florida, USA February 4 – 7, 2019 Organizing Committee Chester B. Whitley, PhD, MD, Chair Lalitha R. Belur, PhD** Philip J. Brooks, PhD** Amber R. Brown, CPP Brenda M. Diethelm-Okita, MPA Yoshikatsu Eto, MD, PhD** Amy Gaviglio, MS, LCGC** Stephen C. Groft, PharmD** Jeanine R. Jarnes, PharmD Priya S. Kishnani, MD, MBBS** Walter C. Low, PhD** R. Scott McIvor, PhD** Jill A. Morris, PhD** Li Ou, PhD** Anne R. Pariser, MD** Marc C. Patterson, MD** David A. Pearce, PhD** Mark S. Sands, PhD** Dawn C. Saterdalen, RN, MBA Danilo A. Tagle, PhD** Cynthia J. Tifft, MD, PhD** Tiina K. Urv, PhD** Steven U. Walkley, DVM, PhD * WORLD is the acronym for We’re Organizing Research for Lysosomal Diseases ** Special thanks is given to members of the Program Committee responsible for abstract review and scoring for platform presentation. https://doi.org/10.1016/j.ymgme.2018.12.013 Available online 29 December 2018 1096-7192 Molecular Genetics and Metabolism 126 (2019) S2–S6 Contents lists available at ScienceDirect Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme WORLDSymposium™ 2019 Introduction Overview category of Basic Science was expanded to include 2 new subcategories: 1) Disease Mechanisms, Pathology, and Biomarkers of Lysosomal Now in the 15th year, WORLDSymposium™ is celebrating numerous Diseases, and 2) Developing Therapeutic Approaches for Lysosomal milestones in research for lysosomal diseases. WORLDSymposium is a Diseases in the Laboratory. The category of Translational Research was multidisciplinary forum and research meeting with the primary purpose subdivided into 3 areas: 1) Gene Therapy, 2) Newborn Screening, and of presenting and discussing the latest advances in basic science, 3) Clinical Trial Readiness – Preclinical Trial Methods and Studies for translational studies, and clinical applications for lysosomes and lyso- Lysosomal Diseases. Finally, Clinical Applications was expanded to somal diseases. WORLD is the acronym for We're Organizing Research for address the separate areas of 1) Clinical Trials for Registration, and 2) Lysosomal Diseases, and WORLDSymposium represents the single lar- Clinical Trials: Improving Outcomes Post-Registration. gest annual global gathering of lysosomal disease experts. WORLDSymposium™ 2019 is scheduled from February 4-7, 2019, at the Poster Sessions Hyatt Regency Orlando in Orlando, Florida, USA. After consecutive record-breaking years of attendance since 2010, attendance at the 2019 In addition to the 390 abstracts submitted before the October 1 meeting is expected to exceed 1,900 participants. deadline, every year additional ‘late breaking’ abstracts can be sub- At the start of WORLDSymposium 2019, two important meetings mitted until December 1. The late-breaking abstracts may be presented help kick-off the 15th annual meeting. On Monday, February 4, 2019, in the poster sessions, but do not appear in this issue of Molecular the Lysosomal Disease Network (LDN) Council of Patient Advocates Genetics and Metabolism, nor are they systematically reviewed for a (COPA) meets in the morning to provide patient-oriented input into the platform presentation. All accepted abstracts are assigned to a specific future of the LDN. On Monday afternoon, Emerging Trends: State-of-the- time for display and discussion during the poster sessions on Tuesday Art for Experts provides updates on the basic science, diagnosis, and and Wednesday after the general session is adjourned. Abstracts are treatment of lysosomal diseases. The content provides comprehensive distributed into two separate poster sessions. First authors with last information on lysosomal diseases, but does not overlap or replace the names from A-L will present their posters on Tuesday, February 5, scientific data being presented during WORLDSymposium™ 2019. 2019, from 4:30–6:30 PM. On Wednesday, February 6, 2019, first au- The program of new research presentations runs Tuesday through thors with last names M-Z and all late-breaking abstracts will be pre- Thursday. The first day of the program is focused on Basic Science, the sented from 4:30–6:30 PM in the Exhibit Hall. second day on Translational Research, and the third on Clinical Applications. This day-by-day progression through the three stages of Molecular Genetics and Metabolism research is a signature feature of WORLDSymposium™. The main em- phasis is to assess the mechanisms and obstacles for taking laboratory To enhance awareness of lysosomal diseases and advance research discoveries to actual treatments and options for patients. A number of designed to provide better therapies, the entire February 2019 special satellite and ancillary meetings — either directly associated with issue of Molecular Genetics and Metabolism is focused on lysosomes and WORLDSymposium™, or independently organized — will be held in lysosomal diseases. In addition to abstracts being presented, the issue is adjacent areas when the meeting is not in session. The week closes with filled with the highest quality, peer-reviewed research articles, some the Council of Research Experts (CORE) NIH-funded LDN Investigators' derived from the Lysosomal Disease Network™ (LDN) studies, and nu- Meeting, which occurs on Thursday evening, February 7, 2019. The merous other organized studies and observations not directly associated Program, and more information about the Symposium and lysosomal with the LDN. diseases, are available at www.WORLDSymposia.org. Nomenclature Platform Presentations The abstracts are minimally edited for clarity and continuity. For The platform program is derived from submitted research abstracts example, it is the editorial practice of WORLDSymposium™ to eliminate judged by a review panel to be of broadest interest, and featured pre- the term “storage” in the context of the name “lysosomal storage dis- sentations by invited speakers. Abstracts submitted at www. ease”. This practice focuses attention on the growing body of knowl- WORLDSymposia.org by the regular October 1 deadline are edge indicating that ‘storage’ may not be the primary common me- considered for platform presentation. For the 2019 program, 390 chanism of pathobiology in these conditions. While the physical scientific abstracts were submitted for consideration for the 74 accumulation of undegradable macromolecules might be important in platform presentations in 7 newly expanded categories. The overall disease manifestations such as skeletal deformation, other processes https://doi.org/10.1016/j.ymgme.2018.12.014 Available online 31 December 2018 1096-7192/ © 2018 Published by Elsevier Inc. Molecular Genetics and Metabolism 126 (2019) S2–S6 such as inflammation and regulation of cell activity through the mTOR health care practitioners who are interested in being current on recent pathway, are increasingly recognized as more critical factors in the advances in the basic science, diagnosis, and treatment of lysosomal underlying pathology. diseases. This course is taught at the postgraduate level, e.g., those with Additionally, disease names and abbreviations have been edited to a PhD, MD, PharmD, DDS, MS, MPH, etc. the original format of Victor McKusick. Although more recent additions such as those made to his Online Inheritance in Man (OMIM, www. Opening Reception and Awards OMIM.org) have accumulated newer names and acronyms from the literature, WORLDSymposium™ chooses to encourage uniformity with a Monday evening will include the recognition of 10 researchers who small number of selected, clinically and historically based, standard were selected for the 2019 WORLDSymposium™ Young Investigator names. Additionally, the choice of disease names also seeks to respect Awards. The award ceremony will occur at 5:15 PM in the Regency grammatically correct language, and to endorse a limited set of Foyer, followed by the WORLDSymposium™ Opening Reception in the abbreviations, e.g., MPS I but not MPS1-H. The possessive form of Exhibit Hall at 5:30 PM. eponyms has been eliminated, e.g., Parkinson disease is used instead of Parkinson's disease and Hurler-Scheie syndrome is used instead of Young Investigator Awards “Hurler's-Scheie's syndrome”. These editorial practices are implemented as an ongoing practice of the WORLDSymposium™ and the Lysosomal Of the abstracts submitted to the meeting for review, 24 in- Disease Network to enhance progress in the field, and are also applied vestigators-in-training who submitted an abstract in the ‘Basic in development of the Official List of Lysosomal Diseases available at Research’ category also applied for the 2019 Young Investigator Award. https://www.worldsymposia.org/official-list-of-lysosomal-diseases/ The WORLDSymposium™ Planning Committee reviewed all applications and 10 individuals were selected to receive the 2019 awards. The in- Monday, February 4, 2019 vestigators listed below are recognized with the 2019 Young Investigator Award and a scholarship in partial support of their parti- Council of Patient Advocates (COPA) WORLDFair™ cipation in the meeting: On Monday morning, WORLDSymposium™ brings together the • Rhea Ashmead, University of Victoria, Victoria, Canada Lysosomal Disease Network's Council