Lysosomal Disease Network WORLD Symposium 2010
Wednesday February 10		BASIC RESEARCH
Session 1	Basic Research I	Co-Chairs: Roscoe Brady Beverly Davidson
8:00	Chester Whitley	Welcome Introduction of the LDN Awardee
8:15	William Sly Saint Louis University School of Medicine Saint Louis, MO, USA	Keynote Address: New Hope for Delivering Enzymes Across the Blood-Brain Barrier
8:45	Walter Low University of Minnesota Minneapolis, MN, USA	Stem Cell Repair of the Central Nervous System
9:15	Andrew Wong King's College London London, London, UK	Viral Vector and Neural Stem Cell Therapies for Batten Disease
9:30	Marcy Weatherspoon Medtronic, Inc. Minneapolis, MN, USA	Scalability of an AAV4-Mediated Gene Therapy in Sheep Following Intracerebroventricular Administration
9:45	Katherine Ponder Washington University School of Medicine St. Louis, MO, USA	The Role of Cathepsin S in Aortic Disease in MPS I and MPS VII Mice and Dogs
10:00	Break and Exhibits
10:15	Cristin Davidson Albert Einstein College of Medicine Bronx, NY, USA	Cyclodextrin Treatment Not Only Delays But Also Reduces Established Intraneuronal Storage in Niemann-Pick Type C Disease
10:30	Michael Tropak Sick Childrens Hospital Toronto, ON, CANADA	Identification of Pyrimethamine Derivatives Showing Improved Enzyme Enhancement Efficacy Towards Mutant Hex A
10:45	Jess Thoene University of Michigan Ann Arbor, MI, USA	Correction of Cystine Storage In Cystinotic Fibroblasts by Recombinant Cystinosin
11:00	Nidhi Gupta NHGRII Bethesda, MD, USA	Are Mutations in Limp-2 associated with Myoclonic Epilepsy in Patients with Gaucher Disease?
11:15	Don Mahuran The Hospital for Sick Children Toronto, ON, Canada	Demonstration of the In Cellulo Efficacy of Pyrimethamine as a Pharmacological Chaperone for Late Onset Tay-Sachs Disease Using a Fluorescent GM2 Ganglioside Analogue
11:30	Richard Steet University of Georgia Athens, GA, USA	Identifying the Pathogenic Mechanisms Associated with ML-II Using Zebrafish and Feline Models
11:45	Session Concludes
	Lunch Break	COPA Meeting
Session 2	Basic Research II	Co-Chairs: Steven Walkley Robert Steiner
1:00	David Begley Kings College London London, UK	The Blood-Brain Barrier: A Central Role in the Pathology and Treatment of Neuronopathic Lysosomal Storage Disorders
1:30	Beverly Davidson University of Iowa Iowa City, IA, USA	Disease Brain Endothelia Provide Unique Molecular Signatures for CNS-directed Enzyme Therapy
2:00	N. Matthew Ellinwood Iowa State University Ames, Iowa, USA	Brain Response to Intrathecal or High Dose Enzyme Replacement Therapy in the MPS I Dog
2:15	David Sleat Center for Advanced Biotechnology and Medicine and University of Medicine and Dentistry of New Jersey - Robert Wood Johnson Medical School, Piscataway, USA Piscataway, NJ, USA	Comparative Proteomics and Lysosomal Disease
2:30	Ernesto Bongarzone University of Illinois, Chicago. Chicago, IL, US	Axonopathy in a Mouse Model Of Krabbe Disease
2:45	Nina Raben NIAMS, National Institutes of Health Bethesda, MD, USA	Suppression of Autophagy as a Therapeutic Approach to Pompe Disease
3:00	Break and Exhibits
3:15	Elizabeth J. White McMaster University Hamilton, ON, Canada	Immune Cell Phenotypes and Cytokine Response in a Mouse Model of Sialidase Deficiency
3:30	Kostantin Dobrenis Albert Einstein College of Medicine of Yeshiva University Bronx, NY, USA	A 34-Amino Acid Peptide Derived from Tetanus Toxin for Neuronal Targeting of Lysosomal Proteins
3:45	Sandrine Vitry Institut Pasteur Paris, Ile de France, France	Abnormal Vacuoles Distinct from Lysosomes in a Mouse Model of Mucopolysaccharidosis Type IIIB
4:00	Dao Pan Cincinnati Children's Hospital Medical Center Cincinnati, OH, U. S. A.	Reprogramming HSC-derived Erythroid Cells for Lysosomal Enzyme Production Leads to Visceral and CNS Cross-correction in Mice with MPS Type I
4:15	Sunita Biswass Harvard Medical School, Massachusetts General Hospital BOSTON, MA, USA	A Chemical Genetic Approach to Identifying Therapeutic Targets for NCL
4:30	Grace Colletti University of Pittsburgh Pittsburgh, Pennsylvania, USA	TRPML1 Downregulation is Associated With Changes in Lysosomal Enzyme Levels
4:45	Susan Cotman Massachusetts General Hospital Boston, MA, USA	Distinct Features of Disease Phenotypes in Two Genetic Models of NCL
5:00	Christiane Auray-Blais CHUS-Université de Sherbrooke Sherbrooke, Quebec, Canada	How Useful is Urinary Lyso-Gb3 as a Biomarker for Fabry Disease?
5:15	Brian Bigger University of Manchester Manchester, Lancashire, UK	The Effect of Long-Term Substrate Reduction Therapy with Genistein in a Mouse Model of MPS IIIB
5:30	Forbes Porter Washington University St. Louis, MO, USA	Cholesterol Oxidation Products are Sensitive and Specific Blood-based Biomarkers for Niemann-Pick C1 Disease
5:45	Poster Session Opens	Poster sessions are not accredited by ACCME.
7:00	Poster Session Closes
Thursday February 11		TRANSLATIONAL RESEARCH
Session 3	Translational Research I	Co-Chairs: William Wilcox Christine Eng
8:00	Chester Whitley	Introduction
8:00	Anne Pariser Food and Drug Administration Silver Spring, MD, USA	Regulation and Review of Small Clinical Trials
8:30	Emil Kakkis Kakkis EveryLife Foundation Novato, CA, USA	Transforming the Development of Treatments for Lysosomal Storage Disorders
9:00	Neal Weinreb University Research Foundation for Lysosomal Storage Disorders Coral Springs, FL, USA	Long-term Data from the ICGG Gaucher Registry: 10 Years of Treatment
9:15	M. Judith Peterschmitt Genzyme Corporation Cambridge, Ma, USA	Bone Response to Genz-112638 in a Phase 2 Study in Gaucher Disease Type 1
9:30	Ari Zimran Shaare Zedek Medical Center Jerusalem, Jerusalem, Israel	Enzyme Replacement Therapy with velaglucerase alfa Improves Key Clinical Parameters in a Pediatric Subgroup with Type 1 Gaucher Disease.
9:45	Juan Ruiz Shire Human Genetic Therapies Cambridge, MA, USA	Antigenic Differences in Patients Receiving Velaglucerase Alfa or Imiglucerase Treatment
10:00	Break and Exhibits
10:15	David Aviezer Protalix Biotherapeutics Carmiel, Israel,	Novel Enzyme Replacement Therapy for Gaucher Disease: Phase III Pivotal Clinical Trial with Plant Cell Expressed Recombinant Glucocerebrosidase (prGCD) - Taliglucerase alfa
10:30	David Warnock University of Alabama at Birmingham Birmingham, AL, USA	End Stage Renal Disease in Patients with Fabry Disease: Natural History Data from the Fabry Registry
10:45	Uma Ramaswarmi Addenbrooke s University Teaching Hospital Cambridge, United Kingdom	Two-year Longitudinal Follow-up Showing Safety and Effectiveness of Enzyme Replacement Therapy using Agalsidase Alfa in Children: Data from the Fabry Outcome Survey
11:00	Michael West Dalhousie University Halifax, NS, Canada	A Randomized Controlled Trial of Enzyme Replacement Therapy in Fabry Disease: The Canadian Fabry Disease Initiative at Year Three.
11:15	Stephen Waldek Salford Royal NHS Foundation Trust Salford, Manchester, United Kingdom	A Validated Disease Severity Scoring System for Fabry Disease
11:30	Ken Valenzano Amicus Therapeutics Cranbury, NJ, USA	Pharmacological Chaperones Increase ERT-Mediated Substrate Reduction In Mouse Models of Fabry and Pompe Disease
11:45	Session Concludes
	Lunch Break	COIL Meeting
Session 4	Translational Research II	Co-Chairs: Gregory Grabowski Elsa Shapiro
1:00	Elizabeth Braunlin University of Minnesota Minneapolis, MN, USA	Cardiac Valvular Interstitial Cells in MPS I
1:30	Robert Steiner Oregon Health & Science University Portland, OR, US	CNS Transplantation of Purified Human Neural Stem Cells in Infantile and Late-Infantile Neuronal Ceroid Lipofuscinoses: Summary of the Phase I Trial
2:00	Jae Choi NIH Bethesda, MD, USA	Alpha-Synuclein Aggregation in Gaucher Patients and Carriers with Synucleinopathies
2:15	Mia Horowitz Tel Aviv University Ramat Aviv, Israel	Interaction Between Mutant Glucocerebrosidase And Parkin: Its Possible Implication to the Development Of Parkinson Disease
2:30	Sean Clark Amicus Therapeutics Cranbury, NJ, USA	Genetic and Pharmacological Chaperone Modulation of Brain GCase Activity Affects Synuclein Accumulation in Mice
2:45	Break and Exhibits
3:00	Derralynn Hughes University College London Hampstead, London, UK	Preliminary Long-Term Safety, Tolerability, and Assessments of Renal Function of Adult Fabry Patients Receiving Treatment with AT1001, a Pharmacological Chaperone, for Up to 3 Years
3:15	Lawrence Charnas Shire HGT Cambridge, MA, USA	A Re-analysis of Disease Stage Progression in Krabbe Disease (infantile Globoid Cell Leukodystrophy, iGLD)
3:30	Alia Ahmed University of Minnesota Minneapolis, MN, USA	Preliminary Data on Quantitative MRI and Neuropsychological Function in the Mild Form of MPS II
3:45	Julie Eisengart University of Minnesota Minneapolis, MN, USA	Differences In Language Functioning In Hurler Syndrome Before And After HCT: A Qualitative Comparison Of Treatments And Risk Factors
4:00	Poster Session Opens	Poster sessions are not accredited by ACCME.
6:00	Poster Session Closes
6:00	Reception and Banquet	During the Banquet, only the presentations (on the following page) will be accredited by ACCME.
Session 5	Clinical Care Symposium	IMPROVING CLINICAL OUTCOMES
		Co-Chairs: John Barranger Marc Patterson
6:30	Joan Keutzer Genzyme Corporation Cambridge, MA, USA	Newborn Screening for Lysosomal Diseases
7:00	Chester Whitley University of Minnesota Minneapolis, MN, USA	Small Molecules for Treatment of Lysosomal Diseases
7:30	Jeanine Utz University of Minnesota, Fairview Pharmacy Services Minneapolis, MN, USA	Medication Therapy Management for Lysosomal Diseases
8:00	John Crowley Amicus Therapeutics Cranbury, NJ, USA	When Drug Research is Personal
8:20		Presentation of Lysosomal Disease Network WORLD Symposium 2010 Advocate Award
Friday February 12		CLINICAL RESEARCH
Session 6	Newborn Screening	Co-Chairs: Joan Keutzer Rodney Howell
8:00	R Rodney Howell Miller School of Medicine, University of Miami Miami, FL, USA	Developing an Evidence Review Process for Newborn Screening Decision-Making
8:30	Patricia Duffner University at Buffalo/Hunter James Kelly Research Institute Buffalo, New York, USA	Longitudinal/Outcome Studies of Children with Krabbe Disease
9:00	Roberta Salveson Mount Sinai Medical Center/Columbia Universtiy New York, NY, USA	Expansion Of Newborn Screening Panels: A Systematic Evaluation of Krabbe Disease Screening in New York State
9:15	Hui Zhou Centers for Disease Control and Prevention Atlanta, GA, USA	Update on Laboratory Support at the Centers for Disease Control and Prevention for Newborn Bloodspot Screening to Detect Lysosomal Storage Disorders
9:30	Dietrich Matern Mayo Clinic College of Medicine Rochester, MN, USA	First Steps Towards Determination Of The Most Efficient And Effective Newborn Screening (NBS) Approach For LSDs
9:45	Trisha Duffey University of Washington Seattle, WA, USA	Newborn Screening For Lysosomal Storage Disorders: Tandem Mass Spectrometry To Quantitate Enzymatic Activity.
10:00	Break and Exhibits
Session 7	LDN NIH-Funded Project Reports	Co-Chairs: Danilo Tagle Mary Lou Oster-Granite
10:15	Elsa Shapiro University of Minnesota Minneapolis, MN, USA	Longitudinal Studies of Brain Structure and Function in MPS Disorders: A Study of the Lysosomal Disease Network
10:30	Agnes Chen Los Angeles Biomedical Institute at Harbor-UCLA Medical Center Torrance, CA, USA	A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I
10:45	Lynda Polgreen University of Minnesota Minneapolis, MN, USA	Update on the Longitudinal Study of Bone Disease and the Impact of Growth Hormone Treatment in MPS I, II, and VI.
11:00	Michael Potegal University of Minnesota Medical School Minneapolis, MN, USA	Empirical Assessment of Social/Emotional Function in Children with MPS III: Preliminary Observations.
11:15	Raphael Schiffman Baylor Research Institute Dallas, TX, USA	The Natural History of Mucolipidosis Type IV
11:30	Jonathan Mink University of Rochester Rochester, NY, USA	The UBDRS Predicts Rate of JCNL (CLN3) Disease Progression
11:45	Session Concludes
	Lunch Break and Exhibits	LDN Investigators Meeting
Session 8	LDN NIH-Funded Project Reports	Co-Chairs: Catherine McKeon Joseph Muenzer
1:00	Jeffrey Krischer University of South Florida Tampa, Fl, USA	The Rare Diseases Clinical Research Network s (RDCRN) Data Management and Coordination Center
1:30	Kyle Rudser University of Minnesota Minneapolis, MN, USA	Statistical Issues In Clinical Trials: Information Growth In Longitudinal Trials
2:00	Sara Cathey Greenwood Genetic Center N. Charleston, SC, USA	Longitudinal Studies Of The Glycoproteinoses: An International Update
2:15	Ronald G. Crystal Joan & Sanford I. Weill Medical College of Cornell University New York, NY, USA	Assessment of Neurological Deterioration in Subjects with LINCL
2:30	Priya Kishnani Duke University Medical Center Durham, NC, USA	Immunological Aspects of Treatment of Pompe Disease
2:45	Marc Patterson Mayo Clinic Rochester, MN, USA	Longitudinal Study of Cognition in Subjects with Niemann-Pick Disease, Type C
3:00	Break and Exhibit
3:15	Gregory Grabowski Children's Hospital Research Foundation Cincinnati, OH, USA	Epidemiology and Natural History of Wolman and Cholesteryl Ester Storage Diseases
3:30	Marsha Browning MGH/Harvard Boston, MA, USA	Fabry Disease Identification
3:45	Michael Mauer University of Minnesota Minneapolis, Minnesota, USA	Natural History and Structural-Functional Relationships in Fabry Renal Disease
4:00	Michael Msall University of Chicago Chicago, IL, USA	Developmental and Functional Surveillance in Preschool Children with Lysosomal Storage Diseases
4:15	William Wilcox Cedars-Sinai Los Angeles, CA, USA	Pulmonary Disease and Exercise Tolerance in Boys with Fabry Disease
4:30	Joe Clarke Hospital for Sick Children Toronto, ON, Canada	Open-Label Phase I/II Clinical Trial of Pyrimethamine for the Treatment of Chronic GM2 Gangliosidosis
4:45	Chester B. Whitley University of Minnesota Minneapolis, MN, USA	A Natural History Study of Hexosaminidase Deficiency
5:00	Chester B. Whitley	Closing remarks
		Curriculum and Faculty are subject to change. As of 1.15.2010