Gordon Research Conferences
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Conference Program
 
Lysosomal Diseases
January 23-28, 2011
Hotel Galvez
Galveston, TX
Chair:
Tony Futerman

Vice Chair:
Frances Platt

Ever since the discovery by de Duve and colleagues of the existence of a 'new group of particles with lytic properties', the so-called 'suicide bags', which were subsequently named lysosomes, great interest has focused on their role in disease. Lysosomal storage disorders, of which more than 50 are known, are caused by the defective activity of lysosomal proteins, which results in the intra-lysosomal accumulation of undegraded metabolites. Despite years of study of the genetic and molecular basis of lysosomal storage disorders, and the advancement of new therapies (such as enzyme replacement therapy and substrate reduction therapy) little is known about the events that lead from lysosomal defects to cell dysfunction and clinical disease pathology.

This new Gordon Research Conference will have sessions on topics ranging from the basic science of lysosomal biology and function (but with strong emphasis on pathogenic mechanisms of lysosomal disease), relationships of lysosomal diseases to other neurological diseases, pathogenic cascades, biomarkers, recent advances in therapy, and clinical trials and design. In addition, there will be a hot topics session (with speakers only chosen closer to the time of the meeting, so as to include the most recent developments) and a poster session (nine short talks chosen at the meeting on the basis of those posters which generate the most interest during the afternoon poster sessions). In addition, a number of short talks will be chosen prior to the meeting based on abstract submissions.


Contributors

SUNDAY
4:00 pm - 8:00 pmArrival and Check-in (Office Closed 6:00 pm - 7:45 pm)
6:00 pmDinner
7:30 pm - 7:40 pmWelcome / Introductory Comments by GRC Site Staff
7:40 pm - 9:30 pmHistory and Current Status
Chair: Tony Futerman (Weizmann Institute)
Discussion Leader: Fran Platt (Oxford University)
7:40 pm - 8:05 pm Chair's opening comments and overview
8:05 pm - 8:35 pm Timothy M. Cox (Cambridge University)
"Tay-Sachs disease - The Debt of Science to Medicine and the Ghetto"
8:35 pm - 8:45 pm Discussion
8:40 pm - 9:10 pm Elizabeth F. Neufeld (UCLA)
"Evolving views of lysosomal storage"
9:10 pm - 9:20 pm Discussion
9:20 pm - 9:30 pm Closing comments and discussion
9:30 pm Welcome Party
MONDAY
7:30 am - 8:30 amBreakfast
8:30 amGroup Photo
9:00 am - 12:30 pmBasic Lysosomal Biology
Chair: Fred Maxfield (Cornell University)
Discussion Leader: Paul Pryor (University of York)
9:00 am - 9:10 am Chair's overview
9:10 am - 9:35 am J. Paul Luzio (University of Cambridge)
"Lysosome fusion machinery"
9:35 am - 9:45 am Discussion
9:45 am - 9:55 am Qian Cai (NINDS, NIH)
"Retrograde transport regulates neuronal autophagy-lysosomal function"
9:55 am - 10:00 am Discussion
10:00 am - 10:30 am Coffee Break
10:30 am - 10:55 am Juan S. Bonifacino (NICHD, NIH)
"Requirement of Retrograde Transport from Endosomes and the TGN for Lysosome Biogenesis and Function"
10:55 am - 11:05 am Discussion
11:05 am - 11:15 am Maaike S. Pols (University Medical Center Utrecht, the Netherlands)
"Implications of HOPS components hVps41 and hVPS39 in LAMP trafficking and lysosome function"
11:15 am - 11:20 am Discussion
11:20 am - 11:45 am Antony Galione (University of Oxford)
"Lysosomes as NAADP-sensitive calcium stores"
11:45 am - 11:55 am Discussion
11:55 am - 12:05 pm Tobias Stauber (Leibniz-Institut für Molekulare Pharmakologie / Max-Delbrück-Centrum für Molekulare Medizin, Berlin)
"Luminal chloride accumulation is required for lysosomal function"
12:05 pm - 12:10 pm Discussion
12:10 pm - 12:30 pm Closing comments and discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmRelationships to Other Diseases
Chair: Raffi Schiffmann (Baylor College)
Discussion Leader: Gregory A. Grabowski (Children's Hospital Medical Center, University of Cincinnati)
7:30 pm - 7:40 pm Chair's overview
7:40 pm - 8:05 pm Ellen Sidransky (NIH)
"Mutations in Glucocerebrosidase as a Risk Factor for Parkinsonism"
8:05 pm - 8:15 pm Discussion
8:15 pm - 8:25 pm Matt Gegg (University College London)
"The effect of GBA1 deficiency on mitochondria: implications for Parkinson's disease"
8:25 pm - 8:30 pm Discussion
8:30 pm - 8:55 pm Ralph Nixon (NYU Langone Medical Center / Nathan Kline Institute)
"Lysosomal System Failure in Alzheimer's Disease"
8:55 pm - 9:05 pm Discussion
9:05 pm - 9:15 pm Silva Hecimovic (Rudjer Boskovic Institute, Zagreb, Croatia)
"Endocytic traffic jam in Niemann Pick type C disease - a cause of increased Alzheimer's amyloid-β formation"
9:15 pm - 9:20 pm Discussion
9:20 pm - 9:30 pm Closing comments and discussion
9:30 pm Social gathering and poster viewing
TUESDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmPathogenic Cascades
Chair: Steve Walkley (Albert Einstein College of Medicine)
Discussion Leader: Fran Platt (Oxford University)
9:00 am - 9:10 am Chair's overview
9:10 am - 9:35 am Andrea Ballabio (Telethon Institute and Baylor College of Medicine)
"Modulation of cellular clearance in lysosomal storage diseases"
9:35 am - 9:45 am Discussion
9:45 am - 9:55 am Matthew C. Micsenyi (Albert Einstein College of Medicine)
"Autophagy dysfunction in lysosomal disease"
9:55 am - 10:00 am Discussion
10:00 am - 10:30 am Coffee Break
10:30 am - 10:55 am Jon Cooper (King's College London)
"The NCLs: a different sort of LSD?"
10:55 am - 11:05 am Discussion
11:05 am - 11:15 am Alessandro Fraldi (Telethon Institute of Genetics and Medicine, Naples)
"Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage diseases"
11:15 am - 11:20 am Discussion
11:20 am - 11:45 am Alessandra d'Azzo (St. Jude Children's Research Hospital)
"Role of NEU1-regulated lysosomal exocytosis in lysosomal storage diseases"
11:45 am - 11:55 am Discussion
11:55 am - 12:05 pm Heather Flanagan-Steet (University of Georgia, Athens)
"Zebrafish Model of ML-II Provides Insight into the Pathogenesis of Bone and Cartilage Defects"
12:05 pm - 12:10 pm Discussion
12:10 pm - 12:30 pm Closing comments and discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmBiomarkers
Chair: John Hopwood (University of Adelaide)
Discussion Leader: Cynthia Tift (NIH)
7:30 pm - 7:40 pm Chair's overview
7:40 pm - 8:05 pm Daniel Ory (Washington University School of Medicine)
"Lipid Biomarkers for Niemann-Pick C Disease"
8:05 pm - 8:15 pm Discussion
8:15 pm - 8:25 pm William C. Lamanna (University of California, San Diego)
"Secondary storage of Dermatan sulfate in Sanfilippo Disease"
8:25 pm - 8:30 pm Discussion
8:30 pm - 8:55 pm Johannes Aerts (Academic Medical Center, Amsterdam)
"In situ visualization of active glucocerebrosidase molecules: applications for diagnosis and research"
8:55 pm - 9:10 pm Discussion
9:10 pm - 9:15 pm Zoltan Lukacs (Hamburg University Medical Center, Hamburg, Germany)
"High-risk population screening for Pompe disease using dried blood specimens - Does heterozygosity confer a risk of muscle disease?"
9:15 pm - 9:20 pm Discussion
9:20 pm - 9:30 pm Closing comments and discussion
9:30 pm Social gathering and poster viewing
WEDNESDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmDefective Lysosomal Transmembrane Proteins
Chair: Bruno Gasnier (Paris Descartes University)
Discussion Leader: Thomas Braulke (Hamburg University)
9:00 am - 9:10 am Chair's overview
9:00 am - 9:35 am Susan A. Slaugenhaupt (Massachusetts General Hospital)
"Mucolipidosis Type IV - Using Phenotype to Guide Functional Studies"
9:35 am - 9:45 am Discussion
9:45 am - 9:55 am Rosa Puertollano (NHLBI, NIH)
"Mucolipin-1 Regulates the Activity of the LAPTM Family of Lysosomal Transporters: New Clues For Understanding Mucolipidosis type IV"
9:55 am - 10:00 am Discussion
10:00 am - 10:30 am Coffee Break
10:30 am - 10:55 am Yiannis A. Ioannou (Mount Sinai School of Medicine)
"Niemann-Pick C1 and L1 Proteins: Opposing ends with similar functions?"
10:55 am - 11:05 am Discussion
11:05 am - 11:15 am Haoxing Xu (University of Michigan)
"Pairing Phosphoinositides with Calcium Ions in Endolysosomal Dynamics"
11:15 am - 11:20 am Discussion
11:20 am - 11:45 am Susan Cotman (Massachusetts General Hospital)
"CLN3p Function and Dysfunction: Clues from Accurate Genetic Models of Juvenile Neuronal Ceroid Lipofuscinosis"
11:45 am - 11:55 am Discussion
11:55 am - 12:05 pm Pieter Steenhuis (University Medical Center Hamburg-Eppendorf, Hamburg)
"Proteolytic cleavage and trafficking of the lysosomal storage disease-related membrane protein CLN7"
12:05 pm - 12:10 pm Discussion
12:10 pm - 12:30 pm Closing comments and discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:00 pm - 7:30 pmBusiness Meeting
(Nominations for the next Vice Chair; Fill out Conference Evaluation Forms; Discuss future Site & Scheduling preferences; Election of the next Vice Chair)
7:30 pm - 9:30 pmExperimental Therapies
Chair: Roscoe Brady (NIH)
Discussion Leader: Bill Sly (St. Louis University School of Medicine)
7:30 pm - 7:40 pm Chair's overview
7:40 pm - 8:05 pm Beverly L. Davidson (University of Iowa)
"Emerging therapies for lysosomal storage diseases affecting the brain"
8:05 pm - 8:15 pm Discussion
8:15 pm - 8:40 pm Jean Michel Heard (Pasteur Institute)
"Correction of storage lesions and associated cellular disorders by gene therapy in mucopolysaccharidoses"
8:40 pm - 8:50 pm Discussion
8:50 pm - 9:15 pm Don Mahuran (University of Toronto)
"Pharmacological chaperones for late onset GM2 gangliosidosis; from Pyrimethamine to more effective derivatives"
9:15 pm - 9:25 pm Discussion
9:25 pm - 9:30 pm Closing comments
9:30 pm Social gathering and poster viewing
THURSDAY
7:30 am - 8:30 amBreakfast
9:00 am - 10:45 amHot Topics
Chair: Volkmar Gieselman (University of Bonn)
Discussion Leader: Marie Vanier (INSERM)
9:00 am - 9:20 am Marco Henneke (Göttingen University)
"RNASET2-deficient cystic leukoencephalopathy: a novel lysosomal storage disorder"
9:20 am - 9:25 am Discussion
9:25 am - 9:45 am Miquel Vila (Vall d'Hebron Research Institute)
"Pathogenic lysosomal membrane permeabilization in Parkinson's disease"
9:45 am - 9:50 am Discussion
9:50 am - 10:10 am James Shayman (University of Michigan)
"Lysosomal phospholipase A2 (PLA2G15) and autoimmunity"
10:10 am - 10:15 am Discussion
10:15 am - 10:45 am Coffee Break
10:45 am - 12:30 pmPoster Talks
Nine short talks, each of 5 minutes in length, will be chosen at the meeting on the basis of those posters which generate the most interest and discussion during the poster sessions.
Discussion Leaders: Maurizio Scarpa (University of Padova), Emyr Lloyd Evans (University of Cardiff) and Thierry Levade (INSERM, Toulouse)
(Speakers TBA)
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmClinical Trial Design and Outcomes
Chair: Marc Patterson (Mayo Clinic)
Discussion Leader: Greg Pastores (New York University Medical School)
7:30 pm - 7:40 pm Chair's overview
7:40 pm - 8:05 pm Ed Kaye (Genzyme Corp.)
"Clinical Drug Development in Rare Diseases: From Proof of Concept to Approval"
8:05 pm - 8:15 pm Discussion
8:15 pm - 8:25 pm Laura Segatori (Rice University, Houston, TX)
"Remodeling protein folding and Ca2+ homeostasis in Gaucher's disease patient-derived fibroblasts: a novel mechanism for mutant glucocerebrosidase proteostasis"
8:25 pm - 8:30 pm Discussion
8:30 pm - 8:55 pm Forbes D. Porter (National Institutes of Health)
"Biomarker development and clinical aspects of Niemann-Pick Disease, type C"
8:55 pm - 9:00 pm Discussion
9:00 pm - 9:10 pm Thomas Kirkegaard (Orphazyme)
"HSP70 and Lysosomal Storage Disorders: Novel Therapeutic Opportunities"
9:10 pm - 9:15 pm Discussion
9:15 pm - 9:30 pm Closing comments
9:30 pm Social gathering and farewell party
FRIDAY
7:30 am - 8:30 amBreakfast
9:00 amDeparture

 
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