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ANNUAL SYMPOSIUM
(February 2008, Las Vegas, NV, USA)
Meeting Program Now Online!
And as a .pdf file  

ANNUAL SYMPOSIUM 2006
Update: The Proceedings of the LDN WORLD Symposium 2006 are now published in the December 2007 issue of
Molecular Genetics and Metabolism
(Volume 92, Issue 4, Pages S1-S34, 287-378)

ANNUAL SYMPOSIUM 2005
Program and Abstracts (640kb .pdf file)

ANNUAL SYMPOSIUM 2004
Program

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The Lysosomal Diseases
with links to PubMed information
Hurler syndrome
Morquio syndrome
Maroteaux-Lamy syndrome
Sly syndrome
Mucopolysaccharidosis type IX
Multiple sulfatase deficiency
Batten disease
Tay-Sachs disease
Pompe disease
Batten disease
Batten disease, late infantile
Northern Epilepsy
Pycnodysostosis
Schindler disease
Sialuria, Salla disease
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 
 
Annual WORLD Symposium
 
  THURSDAY
December 7, 2006		   BASIC SCIENCE    
  Session 1
Thursday Morning		   Pathophysiology of Lysosomal Diseases  
  8:30   Welcome - Chester Whitley  
      Invited Speakers  
  8:45   Tony Futerman - Defective neuronal function in LSDs.
Weizmann Institute of Science, Rehovot, ISRAEL		  
  9:15   Steven Walkley - Lysosomal storage diseases: states of overabundance or deficiency?
Albert Einstein College of Medicine, Bronx, New York
  
      Abstract Presentations  
  9:45   Jerome Ausseil - Heparan sulfate oligosaccharides excreted in MPS IIIB patient urines trigger mouse innate immune response.
Institut Pasteur, Paris, FRANCE 		 
  10:00   Break  
  10:15  

Lorne Clarke - Heparin cofactor II-thrombin complex as an MPS disease biomarker:  Are the MPSs serpinopathies?
The Child and Family Research Institute, Vancouver, CANADA

 
  10:30   Sara Cathey - Mucolipidoses II and III:  A genotype-phenotype emerges.
Greenwood Genetic Center, Greenwood, South Carolina 		 
  10:45   Barbara Triggs-Raine - Generation and characterization of a hyaluronidase 3 deficient mouse model.
University of Manitoba, Winnepeg, CANADA		  
  11:00   Xiaolian Fan - Identification of the gene encoding the enzyme deficient in MPS IIIC (Sanfilippo disease type C).
Hospital For Sick Children, Toronto, CANADA 		 
  11:15   Mohammad Hassan Karimi-Nejad - Sixteen years of experience of biochemical analysis and prenatal diagnosis of lysosomal storage disease in Iran.
Karimi-Nejad-Najmabadi Pathology and Genetic Center, Tehran, IRAN 		 
  11:30   Discussion  
  11:45   Lunch on your own  
  Session 2
Thursday Afternoon		   Future Therapeutic Approaches  
      Invited Speakers  
  1:00   Beverly Davidson - Utilizing the brain microvasculature for CNS therapy.
University of Iowa, Iowa City, Iowa		  
  1:30   Katherine Ponder - Neonatal gene therapy reduces clinical manifestations in MPS I dogs.
Washington University in St. Louis, St. Louis, Missouri
  
      Abstract Presentations  
  2:00   R. Scott McIvor - Adeno-associated virus vector-mediated gene therapy in a murine model of mucopolysaccharidosis type I.
University of Minnesota, Minneapolis, Minnesota 		 
  2:15  

Douglas Martin - Gene therapy of feline gangliosidosis with AAV vectors.
Auburn University , Auburn, Alabama

 
  2:30   Break  
  2:45  

Takashi Shimada - Local and systemic gene therapy for metachromatic leukodystrophy.
Nippon Medical School, Tokyo, JAPAN

 
  3:00   Yang Lu - Intravenous injection of recombinant simian virus-40 (rSV40) vectors correct both visceral and brain pathology in adult mice with mucopolysaccharidosis VII (MPS VII).
Albert Einstein School of Medicine, Bronx, New York 		 
  3:15   Alessandra Biffi - Correction of established neurologic disease and evidences of in vivo cross correction in the mouse model of metachromatic leukodystrophy.
San Raffaele Scientific Institute, Milan, ITALY 		 
  3:30   Perry Hackett - The Sleeping Beauty Transposon system for treatment of mucopolysaccharidoses.
University of Minnesota, Minneapolis, Minnesota		  
  3:45   Discussion  
  4:00   Poster Session  
  5:30   Poster Session closed  
      Dinner on your own  
  FRIDAY
December 8, 2006		   TRANSLATIONAL MEDICINE  
  Session 3
Friday Morning		   Translational Research: Innovative Therapies  
  8:30   Welcome  
      Invited Speakers  
  8:45   Roscoe Brady - Current and future therapies for hereditary metabolic disorders.
National Institutes of Health, Bethesda, Maryland
  
  9:15   Ellen Sidransky - Gaucher disease: Complexity in a "simple" disorder.
National Institutes of Health, Bethesda, Maryland 		 
      Abstract Presentations  
  9:45   Don Mahuran - Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2-gangliosidosis.
Hospital for Sick Children, Toronto, CANADA		  
  10:00   Daniel Ory - Pregnane X receptor (PXR) activation:  A novel mechanism for neuroprotection in a mouse model of Niemann-Pick C disease.
Washington University, St. Louis, Missouri 		 
  10:15   Break  
  10:30   Marc Patterson - Miglustat in Niemann-Pick type C (NPC) disease: Results of 12-months treatment.
Columbia University, New York, New York 		 
  10:45   Ari Zimran - 24-months on treatment: Open-label Phase I/II long-term study of enzyme replacement therapy (ERT) with gene-activated® human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease.
Shaare Zedek Medical Center, Jerusalem, ISRAEL		  
  11:00   Greg Pastores - Beneficial effects of miglustat on skeletal symptoms in type I Gaucher disease: a meta-analysis.
New York University School of Medicine, New York, New York 		 
  11:15   Kerry McEachern - GENZ-112638: a novel orally available ceramide-based inhibitor of glucosylceramide synthase for treating Gaucher disease.
Genzyme Corporation, Framingham, Massachusetts		  
  11:30   Discussion  
  11:45   Lunch on your own  
  Session 4
Friday Afternoon		   Clinical Trials and Methods  
      Invited Speakers  
  1:00   Ronald Crystal - Gene therapy for Batten disease.
Weill Medical College of Cornell University, New York, New York 		 
  1:30   Robert Steiner - A phase I clinical study of human CNS stem cells (HUCNS-SC) in patients with neuronal ceroid lipofuscinosis.
Oregon Health and Science University, Portland, Oregon		  
      Abstract Presentations  
  2:00   Raphael Schiffmann - Fabry disease:  A patient and knock-out mouse study utilizing a systems biology approach.
NINDS, National Institutes of Health, Bethesda, Maryland		  
  2:15   Michael Beck - Safety and efficacy of laronidase in young, severe patients with mucopolysaccharidosis I.
Children's Hospital, University of Mainz, Mainz, GERMANY
  
  2:30   Christine Eng - Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome).
Baylor College of Medicine, Houston, Texas		  
  2:45   Break  
  3:00   Paul Harmatz - Long term safety and efficacy of enzyme replacement therapy for MPS VI (Maroteaux-Lamy syndrome).
Children's Hospital & Research Center, Oakland, California		  
  3:15   Elsa Shapiro - Hippocampal functions in mucopolysaccharidosis I.
University of Minnesota, Minneapolis, Minnesota		  
  3:30  

John Keimel - Intrathecal continuous or intermittent bolus delivery of laronidase results in elevated levels in canine CNS tissue.
Medtronic, Inc., Shoreview, Minnesota

 
  3:45   Discussion  
  4:00   Poster Session  
  5:30   Poster Session closed  
      Dinner on your own  
  SATURDAY
December 9, 2006		   PLENARY SESSION  
  Session 5
Saturday Morning		      
  8:30   Introduction  
  8:45   Special Award & Keynote Address: Henri Termeer  
  9:15   Panel #1: Newborn Screening for Lysosomal Diseases  
     

C. Ronald Scott - Screening of newborns for lysosomal storage diseases.
University of Washington, Seattle, Washington

 
     

Joseph Orsini - Newborn screening for Krabbe disease.
New York State Dept. of Health, Wadsworth Center, Albany, New York

  
     

Olaf Bodamer - Newborn screening for lysosomal storage diseases – a reality?
University Children's Hospital, Vienna, AUSTRIA

  
     

Joan Keutzer - LSD enzyme assays in dried blood spots – from research to newborn screening.
Genzyme Corporation, Framingham, Massachusetts

 
 
9:55
      Panel Discussion  
  10:15   Break  
  10:30   Panel #2: Lysosomal Disease Network Projects  
     

William Wilcox - Females with X-linked Fabry disease frequently have significant organ involvement.
Cedars-Sinai Medical Center, Los Angeles, California

 
     

Elsa Shapiro - A proposed multicenter study of CNS structure and function in MPS I.
University of Minnesota, Minneapolis, Minnesota

 
     

Christine Eng - Biochemical and molecular genetics diagnostic laboratories network.
Baylor College of Medicine, Houston, Texas

  
     

Lynda Polgreen - Endocrine abnormalities in patients with mucopolysaccharidoses.
University of Minnesota, Minneapolis, Minnesota

  
  11:15      Panel Discussion  
  11:30   Lunch on your own  
  Session 6
Saturday Afternoon		   BATTEN DISEASE  
      Invited Speakers  
  1:00   Jonathan Mink - Preparing for experimental therapeutics in JNCL.
University of Rochester Medical Center, Rochester, New York 		 
  1:30   David Pearce - Pathogenesis of juvenile Batten disease.
University of Rochester Medical Center, Rochester, New York 		 
      Abstract Presentations  
  2:00   Heather Adams - Neurobehavioral function in Batten disease.
University of Rochester School of Medicine, Rochester, New York		  
  2:15   Jennifer Kwon - Quantifying progression of Batten disease:  Development and use of a reliable and valid scale.
University of Rochester Medical Center, Rochester, New York 		 
  2:30   Discussion  
  2:45   Break  
  Session 7
Saturday Afternoon		   GAUCHER DISEASE  
      Invited Speakers  
  3:00   Greg Grabowski - Mouse models of Gaucher disease: Insights into visceral and CNS disease progression.
Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio		  
  3:30   John Barranger - A perspective on treatment and cures of Gaucher disease.
Co-PI, Lysosomal Disease Network; University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 		 
      Abstract Presentations  
  4:00   Daniel Urban - The identification and characterization of glucocerebrosidase activators and inhibitors as potential therapeutic agents for Gaucher disease.
National Institutes of Health, Bethesda, Maryland 		 
  4:15   Sandra Yang - Treat type I Gaucher disease with miglustat - Experience with two patients.
Children's National Medical Center, Washington, D.C.		  
  4:30   C.E.M. Hollak - A prospective study of neurological manifestations and other co-morbidities in adult type I Gaucher disease.
Academic Medical Centre, Amsterdam, THE NETHERLANDS 		 
  4:45  

Mia Horowitz - ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity.
Tel Aviv University, Tel Aviv, ISRAEL

  
 
5:00
   Discussion  
 
5:15
   Business Meeting  
  7:00   Banquet  
  Session 8
Saturday Afternoon		   LEUKODYSTROPHIES & GANGLIOSIDOSES  
      Invited Speakers  
  1:00   Edward Schuchman - The pathogenesis and treatment of Acid Sphingomyelinase Deficient Niemann-Pick disease.
Mount Sinai School of Medicine, New York, New York 		 
      Abstract Presentations  
  1:30   Amelia Ahern-Rindell - A unique model of GM1 gangliosidosis.
University of Portland, Portland, Oregon		  
  1:45   Kendra Bjoraker - Bone marrow transplant in metachromatic leukodystrophy: neuropsychological outcomes in early and late disease onset.
University of Minnesota, Minneapolis, Minnesota		  
  2:00   Lawrence Charnas - N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy.
University of Minnesota, Minneapolis, Minnesota
  
  2:15   Cynthia Tifft - Miglustat improves function in patients with juvenile GM1 gangliosidosis.
Children's National Medical Center, Washington, D.C.		  
  2:30   Discussion  
  2:45   Break  
  Session 9
Saturday Afternoon		   MUCOPOLYSACCHARIDOSIS & MUCOLIPIDOSIS  
      Invited Speakers  
  3:15   Jerry Thompson - Use of biochemical and enzyme studies to support diagnosis of mucopolysaccharidoses.
University of Alabama, Birmingham, Alabama		  
  3:45   Joseph Muenzer - Treatment of MPS: Current status, limitations and future challenges.
University of North Carolina, Chapel Hill, North Carolina 		 
      Abstract Presentations  
  4:15   Paul Orchard - Factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation.
University of Minnesota, Minneapolis, MN 		 
  4:30   Calogera Simonaro - Molecular mechanisms underlying joint and bone disease in the mucopolysaccharidoses (MPS).
Mount Sinai School of Medicine, New York, New York 		 
  4:45   Tim Wood - Molecular and biochemical studies of MPS II patients and families.
Greenwood Genetic Center, Greenwood, South Carolina 		 
  5:00   Discussion  
  5:15   Business Meeting  
  7:00   Banquet  
  Session 10
Saturday Afternoon		   FABRY DISEASE  
      Invited Speaker  
  1:00   William Wilcox - Females with X-linked fabry disease frequently have significant organ involvement.
Cedars-Sinai Medical Center, Los Angeles, California		  
      Abstract Presentations  
  1:30   Joseph Clarke - Alternative dosing regimens of agalsidase alfa (Replagal®) in Fabry disease.
Hospital for Sick Children, Toronto, CANADA		  
  1:45   Michael West - Withdrawal of enzyme replacement therapy in Fabry disease: Indirect evidence of treatment benefit?
Dalhousie University, Halifax CANADA 		 
  2:00   Robert Hopkin - Quality of life for pediatric patients with Fabry disease.
Cincinnati Children's Hospital Medical Center, Cinncinati, Ohio
 
  2:15   Raymond Wang - Fabry disease female heterozygotes are not just "carriers," but have a significant burden of disease and impaired quality of life.
Cedars-Sinai Medical Center, Los Angeles, California		  
  2:30   Daniel Gruskin - The incidence of depression and anxiety is increased in patients affected by Fabry disease.
Emory University, Decatur, Georgia		  
  2:45   Discussion  
  3:00   Break  
  Session 11
Saturday Afternoon		   POMPE DISEASE  
      Invited Speakers  
  3:15   Barry Byrne - Pompe disease: Lessons from preclinical studies and future challenges.
University of Florida Health Science Center, Gainesville, Florida		  
  3:45   Priya Kishnani - Diagnosing and treating Pompe disease, long term outcome and risk factors.
Duke University Medical Center, Durham, North Carolina		  
      Abstract Presentations  
  4:15   Judith Phalin - Case report of patient with infantile-onset Pompe disease treated with alglucosidase alfa beginning at age 16.
Children's Hospital Central California, Madera, California
  
  4:30   Dwight D. Koeberl - Enhanced response to enzyme replacement therapy in Pompe disease following the induction of immune tolerance.
Duke University Medical Center, Durham, North Carolina
  
  4:45   Discussion  
  5:00   Break  
  5:15   Business Meeting  
  7:00   Banquet  
  8:40   Adjourn to East-facing Balconies of the Contemporary Resort  
  8:47   Space Shuttle Discovery launch (STS-116). The first night launch in 4 years!  
  Thursday & Friday
4:00 - 5:30 		  POSTER SESSIONS  
      Heather R. Adams - Neurobehavioral function in Batten disease.
University of Rochester School of Medicine & Dentistry, Rochester, New York		  
     

Elena L. Aronovich - Sleeping Beauty Transposon-mediated correction of Mucopolysaccharidosis Type I.
University of Minnesota, Minneapolis, Minnesota

  
     

Christiane Auray-Blais - Development of a filter paper method applicable to a mass urinary screening for Fabry disease.
Université de Sherbrooke, Sherbrooke, Quebec, CANADA