Lysosomal Disease Network

8th Annual
WORLD Symposium
San Diego, California, 2012
February 8,9,10

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for the meeting, as well as

"Lysosomes 101" and to learn about lodging options.

Abstract submissions are closed.

Untitled Document

WORLD Symposiumtm 2012 Travel Scholarship Awardees
Abdu Alayoubi, MBBS	Ontario Cancer Institute, University Health Network	Generation of a Novel Mouse Model That Mimics Farber Disease
Jessica de Ruijter, MD	AMC. Emma's Children Hospital	Genistein In Sanfilippo Disease: A Randomized Controlled Cross-over Trial
Joseph Gibney, BS	University of Florida	Effects of minozak and/or genistein on the central nervous system of Sanfilippo Syndrome Type B mice.
Brittney Gurda, PhD	University of Pennsylvania, Gene Therapy Program, Department of Pathology and Laboratory Medicine	Liver-Directed Gene Therapy for Mucopolysaccharidosis Type I (MPS I)
Janet Hsu, BS	University of Maryland	Enhanced Kidney and Heart Delivery of alpha -Galactosidase by Modulating Enzyme Load and Carrier Bulk-Concentration of ICAM-1-Targeted Nanocarriers
Kelly King, PhD	University of Minnesota	Verbal Memory and Hippocampal Volume in Individuals with MPS-I
Victor Kovac, BA	University of Minnesota	New Methods For Volumetric Analysis Of The Canine Hippocampus
Sandra Kyosen, MD	UniversidadeÂ Federal de Sao Paulo (UNIFESP)	Diagnosis Of Pompe Disease (PD) Using Dried Blood Spots On Filter Paper (DBS) At The Laboratory Of A Brazilian Reference Center For Inborn Errors Of Metabolism (LEIM)
Arash Velayati, MD	Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health	Genome-wide RNAi screen for lysosomal storage disorders
Gustavo Viana, BS MS	Universidade Federal de Sao Paulo (UNIFESP)	Impaired Medullary Hematopoiesis In Murine Mucopolysaccharidosis Type I

*LYSOSOMES 101* WORLD Symposium 2012 Manchester Hyatt Hotel San Diego, CA, USA February 7, 2012
Time	Subject	Instructor
1:00 - 1:05 PM	Welcome: Rationale and Course Goals (5 min)
1:05 - 2:00 PM	The Molecular Biology and Cell Biology of Lysosomes (55 min)	Steven U Walkley, PhD
2:00 - 2: 55 PM	Lysosomal Diseases and Pathology (55 min)	Chester B Whitley, PhD, MD
2:55 - 3:10 PM	Break (15 min)
3:10 - 4:05 PM	Treatments for Lysosomal Diseases (55 min)	Jeanine R Utz, PharmD
4:05 - 5:00 PM	Clinical Correlation: Cases of Lysosomal Disease (55 min)	Marc C Patterson, MD
5:00 PM		Adjourn

SYMPOSIUM PROGRAM Wednesday, February 8, 2012
Session 1	Basic Research I
8:00	Chester Whitley	Opening Remarks
8:30	John J. Hopwood Women's and Children's Hospital Adelaide, South Australia, Australia	Keynote Address: Traveling with the Mucopolysaccharidoses Toward Solutions
9:00	Richard Steet University of Georgia Athens, GA, USA	Excessive Activity Of Cathepsin K Is Associated With The Cartilage Defects In A Zebrafish Model For Mucolipidosis II
9:15	Shunji Tomatsu Alfred I. Dupont Institute Hospital for Children Wilmington, DE, USA	Quantitative Evaluation of Bones in Murine MPS VII after Replacement Therapy Using Chemically Modified Enzyme
9:30	Edward Schuchman Mount Sinai school of Medicine New York, NY, USA	A Novel Use For Acid Ceramidase In Cell-Based Therapies For Degenerative Joint Diseases, Including The Mucopolysaccharidoses
9:45	Paula Rozenfeld Universidad Nacional de La Plata La Plata, Buenos Aires, Argentina	Study Of The Mechanisms Of Osteoclastogenesis Induction In An In Vitro Model Of Gaucher Disease
10:00	Break & Exhibits
10:15	Joseph Mazzulli Massachusetts General Hospital / Harvard Medical School Charlestown, MA, USA	A Mechanistic Connection Between Gaucher Disease and the Synucleinopathies.
10:30	Derek Burke University College London & Great Ormond Street Hospital London, London, UK	Glucocerebrosidase 1 and 2 – Factors To Consider In The Pathogenesis Of Parkinson's Disease
10:45	Richie Khanna Amicus Therapeutics Cranbury, NJ, USA	Exploring the Use of Pharmacological Chaperone AT3375 Alone and in Combination with Recombinant human §-Glucosidase for Gaucher Disease
11:00	Zhenhong Crusoe Nan University of Minnesota Minneapolis, MN, USA	Spatial Navigation and Working Memory Tests Demonstrate Neurological Deficits in a Murine Model of Mucopolysaccharidosis Type II (Hunter Syndrome)
11:15	Victor Kovac University of Minnesota Minneapolis, Minnesota, USA	New Methods For Volumetric Analysis Of The Canine Hippocampus
11:30	Lunch Break
Session 2	Basic Research II
1:00	Carlos Almeciga Diaz Pontificia Universidad Javeriana Bogota, D.C., Colombia	A System Biology View of the Glycosaminoglycans Degradation Pathways
1:15	Arash Velayati Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda, MD, USA	Genome-wide RNAi Screen for Lysosomal Storage Disorders
1:30	Dan Wang University of Alabama at Birmingham Birmingham, AL, USA	Suppression Of A Nonsense Mutation In A Mouse Model Of Hurler Syndrome
1:45	Roberto Giugliani Medical Genetics Service/HCPA and Department of Genetics/UFRGS Porto Alegre, RS, Brazil	Cloramphenicol: A Pharmacological Chaperone?
2:00	Gustavo Viana Universidade Federal de S‹o Paulo (UNIFESP) S‹o Paulo, S‹o Paulo, Brazil	Impaired Medullary Hematopoiesis In Murine Mucopolysaccharidosis Type I
2:15	Gustavo Maegawa Johns Hopkins University School of Medicine Baltimore, MD, United States	Development of a Psychosine Assay to Identify Therapeutic Small Molecules for Krabbe Disease
2:30	Rodney Moreland Genzyme Corporation Framingham, MA, USA	Pompe Syndrome: Dysregulation of Multiple Facets of Glycogen Metabolism in a Murine Model of Pompe Disease
2:45	Isabel Jaenecke Johannes Gutenberg University Medical School, Mainz, Germany Mainz, Rheinland-Pfalz, Germany	Do SLC7 family members constitute the salvage pathway in the therapy of cystinosis?
3:00	Break & Exhibits
3:15	N. Ellinwood Iowa State University Ames, IA, USA	Genetically Determined Storage of Heparan Sulfate Interacts in GalNAc Transferase Null mice to Confer and Substantially Accelerated MPS III Phenotype
3:30	Julie Bruyere Institut Pasteur Paris, Ile de France, France	Extracellular Heparan Sulfate Oligosaccharides Affect Integrin Signaling and Cell Polarization
3:45	Mark Leavitt Synageva BioPharma Lexington, MA, USA	SBC-103, a Recombinant Enzyme Replacement Therapy, Demonstrates Potential for the Treatment of Sanfilippo Type B Syndrome
4:00	Andrzej Swistowski Biomarin Pharmaceutical Inc Novato, CA, USA	Development of MPS IVA Syndrome Cellular Models Using Patient Specific Induced Pluripotent Stem Cells
4:15	Angela Sosa Saint Louis University / Pontificia Universidad Javeriana Saint Louis, Missouri, United States	Identification Of Immunodominant Epitopes In N-Acetylgalactosamine 6-Sulfate Sulfatase (GALNS) For Designing An Effective Peptide-Based Immunotherapy.
4:30	Shaalee Dworski Institute of Medical Science, University of Toronto Toronto, ON, Canada	Gene Expression Profiling of a Mouse Model of Fabry disease
4:45	Mia Horowitz Tel Aviv University Ramat Aviv, Israel	The E3 Ligase Itch Regulates Degradation Of Mutant Glucocerebrosidase
5:00	Session ends
5:00	Poster Session Opens
7:00	Poster Session Closes
Thursday, February 9, 2012
Session 3	Translational Research I
8:00	Mark Haskins University Of Pennsylvania Philadelphia, PA, USA	Large Animal Models of Lysosomal Storage Diseases: Lessons on the Limits of Gene/Enzyme Therapy
8:30	David Wenger Jefferson Medical College Philadelphia, PA, USA	Use of AAVrh10-GALC to Treat the Twitcher Mouse Model of Krabbe Disease
8:45	Abdu Alayoubi Ontario Cancer Institute, University Health Network Toronto, Ontario, Canada	Generation of a Novel Mouse Model That Mimics Farber Disease
9:00	Brett Crawford Zacharon Pharmaceuticals San Diego, CA, USA	Small Molecule Inhibitors of Ganglioside Biosynthesis as Substrate Reduction Therapy for the Gangliosidoses
9:15	Brittney Gurda University of Pennsylvania, Gene Therapy Program, Department of Pathology and Laboratory Medicine Philadelphia, PA, USA	Liver-Directed Gene Therapy for Mucopolysaccharidosis Type I (MPS I)
9:30	Christiane Auray Blais Universitè de Sherbrooke, Faculty of Medicine and Health Sciences Sherbrooke, Quebec, Canada	A Metaboloic Study Leads to Detection of Novel Fabry Disease Biomarkers
9:45	Silvia Muro University of Maryland College Park, MD, USA	Transport of alpha-Galactosidase Coupled to ICAM-1-Targeted Nanocarriers Across Gastrointestinal Epithelial Cells
10:00	Break & Exhibits
10:15	Janet Hsu University of Maryland College Park, MD, USA	Enhanced Kidney and Heart Delivery of alpha-Galactosidase by Modulating Enzyme Load and Carrier Bulk-Concentration of ICAM-1-Targeted Nanocarriers
10:30	John Shacka UAB Dept Pathology, Birmingham VA Medical Center Birmingham, AL, USA	CNS Neuropathology in a Mouse Model of Fabry Disease Indicates Alterations in the Autophagy-Lysosome Pathway
10:45	Dwight Koeberl Duke University Durham, NC, United States	Beta2 Agonists Enhance Efficacy of Enzyme Replacement Therapy in Murine Pompe Disease
11:00	Barry Byrne University of Florida Gainesville, FL, USA	Phase I/II Trial of Adeno-associated Virus Acid-alpha-Glucosidase (AAV-GAA) Diaphragm GeneTherapy for Ventilatory Failure in Pompe Disease.
11:15	Sandra Kyosen Universidade Federal de S‹o Paulo (UNIFESP) S‹o Paulo, S‹o Paulo, Brazil	Diagnosis Of Pompe Disease (PD) Using Dried Blood Spots On Filter Paper (DBS) At The Laboratory Of A Brazilian Reference Center For Inborn Errors Of Metabolism (LEIM)
11:30	Lunch Break
Session 4	Translational Research II
1:00	C. Ronald Scott University of Washington, Dept. of Pediatrics Seattle, WA, USA	A Pilot Program Screening for Fabry, Pompe, and MPS I in a Newborn Screening Laboratory: The First 60,000 Samples
1:15	Barbara Burton Children's Memorial Hospital and Northwestern University Feinberg School of Medicine Chicago, IL, USA	A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois.
1:30	Vamsee Pamula Advanced Liquid Logic Inc. Morrisville, NC, USA	Rapid LSD Assays on a Multiplex Digital Microfluidic Platform for Newborn Screening
1:45	Dietrich Matern Mayo Clinic College of Medicine Rochester, MN, USA	Development of efficient and effective newborn screening (NBS) strategies for LysosomalStorage Disorders (LSD)
2:00	John Hamilton Yorkhill Hospital Glasgow, Scotland, United Kingdom	A New Method For The Measurement Of Lysosomal Acid Lipase In Dried Blood Spots Using The Inhibitor Lalistat 2
2:15	Gheona Altarescu Shaare Zedek Medical Center Jerusalem, Israel, Israel	Preventing Lysosomal Storage Disorders by Preimplantation Genetic Diagnosis
2:30	Break & Exhibits
2:45	David Pearce Sanford Research Sioux Falls, SD, USA	Glutamate Receptors: A Therepeutic Target in Batten Disease
3:00	Brian Vuillemenot BioMarin Pharmaceutical Inc. Novato, CA, USA	Intracerebroventricular (ICV) Recombinant Human Tripeptidyl Peptidase-1 (rhTPP1) Enzyme Replacement Attenuates Disease Progression In A Canine Model Of Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL).
3:15	Calogera Simonaro Mount Sinai school of Medicine New York, NY, USA	Novel Therapies For The Mucopolysaccharidoses That Target Inflammation & Impact Skeletal Disease
3:30	Joseph Gibney University of Florida Gainesville, FL, USA	Effects of Minozak and/or Genistein on the Central Nervous System of Sanfilippo Syndrome Type B mice.
3:45	Brandon Hays University of Minnesota Minneapolis, MN, USA	Cardiac Ultrasound Findings in Sanfilippo Syndrome Type A
4:00	Poster Session & Reception
4:15	Session ends
5:30	Poster Session Closes
6:15	Banquet
Friday, February 10, 2012
Session 5	Clinical Research I
8:00	Ann Pariser U.S. Food and Drug Administration Silver Spring, MD, USA	Clinical Development of Products to Treat Rare Diseases
8:30	Eric Hanson Tier 7 Research and Development Las Vegas, NV, USA	Multiparametric 3.0 Tesla MRI of the Brain in Fabry Disease
8:45	Igor Nestrasil University of Minnesota Minneapolis, MN, USA	Brain Volumes and Cognitive Function in MPS IIIA (Sanfilippo Syndrome Type A): Cross-sectional Study
9:00	Katherine Sims Massachusetts General Hospital; Harvard Medical School Boston, MA, US	Neuroimaging Characteristics In Fabry Disease: White Matter Hyperintensity Volume Assessment in Patients with Fabry Disease
9:15	Kelly King University of Minnesota Minneapolis, MN, USA	Verbal Memory and Hippocampal Volume in Individuals with MPS-I
9:30	Padmaja Yerramilli-Rao Massachusetts General Hospital Boston, MA, USA	The Natural History of Late Onset Tay-Sachs Disease
9:45	Marc Patterson Mayo Clinic Rochester, MN, USA	Update from the International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice
10:00	Break & Exhibits
10:15	Stepan Havranek First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague Prague, Prague, Czech Republic	Serial ECG, Echocardiography and Holter Monitoring in Children with Anderson-Fabry Disease
10:30	Paul Harmatz Children's Hospital & Research Center Oakland Oakland, California, USA	Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Development Of Clinical And Laboratory Guidelines For Diagnosis
10:45	Suhrad Banugaria Duke University Medical Center Durham, NC, USA	Long Term Outcome and Clinical Experience on Immune Tolerance Induction Therapies in Infantile Pompe Disease
11:00	Priya Kishnani Duke University Medical Center Durham, NC, USA	Characteristics Associated with Delays in Diagnosis of Pompe Disease Among Patients Enrolled in the Pompe Registry
11:15	Pramod Mistry Yale University School of Medicine New Haven, CT, USA	Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry
11:30	Lunch Break
1:00	Behzad Najafian University of Washington Seattle, WA, USA	Mosaicism of Podocyte Involvement in Untreated Females with Fabry Disease
1:15	Raphael Schiffmann Baylor Research Institute Dallas, TX, USA	Increased Urinary Globotriaosylceramide and Previously Undiagnosed Fabry Patients are Found in a Non-selected Heart Disease Patient Population
1:30	Roberto Giugliani Universidade Federal do Rio Grande do Sul Porto Alegre/RS, Brazil	Oral Migalastat HCL (AT1001/GR181314A) As An Investigational Therapy Evaluated In Females With Fabry Disease
1:45	Daniel Bichet Universite do Montreal Montreal, Quebec, Canada	Fabry Disease Mutations Addressable With Migalastat HCl, An Investigational Chaperone Therapy. Screening Results From FACETS, A Phase 3 Study In Male And Female Patients.
2:00	Christian Hendriksz Birmingham Children's Hospital NHS Foundation Trust Birmingham, West Midlands, United Kingdom	Long Term Outcomes of a Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio Syndrome Type A)
2:15	Line Borgwardt University hospital of Copenahgen, Rigshospitalet Copenhagen, Denmark	Enzyme Replacement Therapy for Patients with alpha-Mannosidosis.
2:30	Gregory Enns Stanford University Palo Alto, CA, USA	Initial Human Experience With SBC-102, A Recombinant Enzyme Replacement Therapy in Adults with Lysosomal Acid Lipase Deficiency
2:45	Michael West Dalhousie University Halifax, Nova Scotia, Canada	Prospective Results of Switching Enzyme Replacement Therapy from Agalsidase beta to Agalsidase alfa in the Canadian Fabry Disease Initiative Study
3:00	Break & Exhibits
3:15	Deborah Elstein Shaare Zedek Medical Center and Hebrew University-Hadassah Medical School Jerusalem, Israel	Achievement Of Therapeutic Goals Over 2 Years Of Velaglucerase Alfa Enzyme Replacement Therapy In Patients With Type 1 Gaucher Disease
3:30	Pilar Giraldo Hospital Universitario Miguel Servet Zaragoza, Spain	Two-Year Efficacy And Safety Of Velaglucerase Alfa In Patients With Type 1 Gaucher Disease Switching From Imiglucerase: Phase III Trial HGT-GCB-039 And Extension
3:45	Ari Zimran Shaare Zedek Medical Center Jerusalem, Israel	Long Term Safety and Efficacy Data of Taliglucerase alfa, a Plant Cell Expressed Recombinant Glucocerebrosidase, in Treatment of Na•ve Gaucher Disease Patients
4:00	Gregory Pastores New York University School of Medicine New York, NY, USA	Plant Cell Expressed Recombinant Glucocerebrosidase - taliglucerase alfa as Therapy for Gaucher Disease in Patients Previously Treated with imiglucerase
4:15	M. Judith Peterschmitt Genzyme Cambridge, MA, USA	Eliglustat, an Investigational Oral Therapy for Gaucher Disease Type 1 (GD1): Updated Phase 2 Results
4:30	Bruce A. Barshop University of California San Diego California, CA, US	POM-001 Phase 1/2 Study of BMN 701, GILT-tagged Recombinant Human (rh) GAA in Late-Onset Pompe Disease: Preliminary Report
4:45	Jessica de Ruijter AMC. Emma's Children Hospital Amsterdam, Noord-Holland, The Netherlands	Genistein In Sanfilippo Disease: A Randomized Controlled Cross-over Trial
5:00	Session ends