Sunday
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4:00 pm - 8:00 pm |
Arrival and Check-in
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6:00 pm - 7:00 pm |
Dinner
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7:30 pm - 7:40 pm |
Introductory Comments by GRC Site Staff / Welcome from the GRC Chair
|
7:40 pm - 9:30 pm |
Keynote Session: New Frontiers in Intracellular Trafficking
Discussion Leaders: Andrea Ballabio (Telethon Institute of Genetics and Medicine (TIGEM), Italy) and Beverly Davidson (The Children's Hospital of Philadelphia, USA)
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7:40 pm - 7:50 pm |
Opening Remarks
|
7:50 pm - 7:55 pm |
Introduction by Discussion Leader
|
7:55 pm - 8:35 pm |
Scott Emr (Weill Institute for Cell and Molecular Biology, Cornell University, USA)
"Sorting out Membrane Traffic to the Lysosome: Ubiquitin,
ESCRTs, Membrane Contact Sites, and Protein Quality Control Pathways"
|
8:35 pm - 8:40 pm |
Discussion
|
8:40 pm - 8:45 pm |
Introduction by Discussion Leader
|
8:45 pm - 9:25 pm |
Tomas Kirchhausen (Harvard Medical School, USA)
"Cellular Dynamics Imaged in Real Time and in 3D"
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9:25 pm - 9:30 pm |
Discussion
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Monday
|
7:30 am - 8:30 am |
Breakfast
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9:00 am - 12:30 pm |
Lysosomal Positioning and
Movement
Discussion Leader: J. Paul Luzio (Cambridge Institute for Medical Research, University of Cambridge, United Kingdom)
|
9:00 am - 9:20 am |
Juan Bonifacino (National Institute of Child Health and Human Development, NIH, USA)
"BORC Coordinates Encounter and Fusion of
Lysosomes with Autophagosomes"
|
9:20 am - 9:30 am |
Discussion
|
9:30 am - 9:50 am |
Ana-Maria Lennon-Dumenil (Institut Curie, France)
"Linking Lysosome Signaling to Cell Migration"
|
9:50 am - 10:00 am |
Discussion
|
10:00 am - 10:30 am |
Coffee Break
|
10:30 am - 10:45 am |
Selected from Poster Abstracts: Tania Lopez-Hernandez (Leibniz-Institut für Molekulare Pharmakologie (FMP), Germany)
"Absence of the Astrocytic AP-2 Disrupts Intracellular Calcium and Sodium Homeostasis and Dysregulates Glutamate Uptake and Lysosomal Function"
|
10:45 am - 10:50 am |
Discussion
|
10:50 am - 11:10 am |
Harald Stenmark (Norwegian Radium Hospital, Norway)
"Lysosome Positioning and Disease"
|
11:10 am - 11:20 am |
Discussion
|
11:20 am - 11:35 am |
Selected from Poster Abstracts: Xianping Dong (Dalhousie University, Canada)
"A Negative Feedback Regulation of mTOR by the Lysosomal Ca2+ Channel TRPML1 Using a Calmodulin-Dependent Mechanism"
|
11:35 am - 11:40 am |
Discussion
|
11:40 am - 12:00 pm |
Gillian Griffiths (Cambridge Institute for Medical Research, University of Cambridge, United Kingdom)
"Diseases Affecting Lysosomal Function in Immune
Cells"
|
12:00 pm - 12:10 pm |
Discussion
|
12:10 pm - 12:30 pm |
General Discussion
|
12:30 pm - 1:30 pm |
Lunch
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1:30 pm - 4:30 pm |
Free Time
|
4:30 pm - 6:00 pm |
Poster Session
|
6:00 pm - 8:00 pm |
Lysosomal Membrane Proteins
and Human Diseases
Discussion Leaders: Bruno Gasnier (Paris Descartes University, France) and Volkmar Gieselmann (University of Bonn, Germany)
|
6:00 pm - 6:20 pm |
Paul Saftig (Christian Albrechts University of Kiel, Germany)
"Lysosomal Membrane Proteins in the Crosstalk Between the Cytosolic and Degradative World"
|
6:20 pm - 6:30 pm |
Discussion
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6:30 pm - 6:50 pm |
Thomas Jentsch (Max Delbruck Center for Molecular Medicine, Germany)
"Role of CLC Anion/Proton Exchangers in Lysosomal Ion Homeostasis and Function"
|
6:50 pm - 7:00 pm |
Discussion
|
7:00 pm - 7:20 pm |
Emyr Lloyd-Evans (Cardiff University, United Kingdom)
"Insights into the Function of CLN3, a Novel
Lysosomal Ion Channel"
|
7:20 pm - 7:30 pm |
Discussion
|
7:30 pm - 7:45 pm |
Selected from Poster Abstracts: Leopoldo Staiano (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
"OCRL Controls a Lysosomal Response Triggered by Autophagosome-Lysosome Fusion"
|
7:45 pm - 7:50 pm |
Discussion
|
7:50 pm - 8:00 pm |
General Discussion
|
8:00 pm - 9:00 pm |
Dinner
|
Tuesday
|
7:30 am - 8:30 am |
Breakfast
|
8:30 am - 9:00 am |
Group Photo
|
9:00 am - 12:30 pm |
Mechanisms of LSDs
Discussion Leaders: Alessandra D'Azzo (St. Jude Children's Research Hospital, USA) and Steven Walkley (Albert Einstein College of Medicine, USA)
|
9:00 am - 9:20 am |
Elina Ikonen (University of Helsinki, Finland)
"Endo-Lysosomal Lipid Transport Mechanisms"
|
9:20 am - 9:30 am |
Discussion
|
9:30 am - 9:50 am |
Thomas Braulke (University Medical Center Hamburg-Eppendorf, Germany)
"Lysosomal
Dysfunction and Transcriptional Control"
|
9:50 am - 10:00 am |
Discussion
|
10:00 am - 10:30 am |
Coffee Break
|
10:30 am - 10:45 am |
Selected from Poster Abstracts: Camila de Aragao (Centre Hospitalier Universitaire Sainte-Justine, Canada)
"Synaptic Dysfunction in Sanfilippo Type C Syndrome"
|
10:45 am - 10:50 am |
Discussion
|
10:50 am - 11:10 am |
Frances Platt (University of Oxford, United Kingdom)
"Pathogenic Mechanisms in Niemann-Pick Type C
Disease"
|
11:10 am - 11:20 am |
Discussion
|
11:20 am - 11:35 am |
Selected from Poster Abstracts: Silvana Zanlungo (Pontificia Universidad Catolica de Chile, Chile)
"c-Abl Signaling Is Activated and Relevant in Lysosomal Diseases"
|
11:35 am - 11:40 am |
Discussion
|
11:40 am - 12:00 pm |
Nuno Raimundo (University Medical Center Goettingen, Germany)
"Lysosomal Malfunction Impairs Mitochondria – A Unifying Mechanism in Lysosomal Storage Diseases"
|
12:00 pm - 12:10 pm |
Discussion
|
12:10 pm - 12:30 pm |
General Discussion
|
12:30 pm - 1:30 pm |
Lunch
|
1:30 pm - 4:30 pm |
Free Time
|
4:30 pm - 6:00 pm |
Poster Session
|
6:00 pm - 8:00 pm |
Lysosomal Dysfunction in
Diseases Other than LSDs
Discussion Leader: Tony Futerman (Weizmann Institute of Science, Israel)
|
6:00 pm - 6:20 pm |
Ralph Nixon (NYU Langone Medical Center, USA)
"Lysosomal Acidification: Emerging Relevance to
Neurodegenerative Disorders"
|
6:20 pm - 6:30 pm |
Discussion
|
6:30 pm - 6:50 pm |
Seung-Jae Lee (Seoul National University, South Korea)
"The Role of Lysosomal Dysfunction in Propagation
of Synucleinopathies"
|
6:50 pm - 7:00 pm |
Discussion
|
7:00 pm - 7:20 pm |
Judith Klumperman (University Medical Center Utrecht, The Netherlands)
"Mutations in the Tethering Protein Vps41 Leads to
Altered Lysosome Functioning Causing a Parkinson-Like Phenotype"
|
7:20 pm - 7:30 pm |
Discussion
|
7:30 pm - 7:45 pm |
Selected from Poster Abstracts: Ellen Sidransky (National Human Genome Research Institute, NIH, USA)
"Modeling GBA1-Associated Parkinsonism: Parkinson Mice with Gba1 Haploinsufficiency Have an Earlier Disease Onset and a More Rapid Progression of Symptoms"
|
7:45 pm - 7:50 pm |
Discussion
|
7:50 pm - 8:00 pm |
General Discussion
|
8:00 pm - 9:00 pm |
Dinner
|
Wednesday
|
7:30 am - 8:30 am |
Breakfast
|
9:00 am - 12:30 pm |
Innovative Therapies
Discussion Leader: Alberto Auricchio (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
|
9:00 am - 9:20 am |
Timothy Cox (University of Cambridge, United Kingdom)
"Therapeutic Understanding in the Sphingolipidoses"
|
9:20 am - 9:30 am |
Discussion
|
9:30 am - 9:50 am |
Silvia Muro (University of Maryland, College Park, USA)
"ICAM-1 Targeting and Nanocarrier-Based Delivery
of Lysosomal Enzymes"
|
9:50 am - 10:00 am |
Discussion
|
10:00 am - 10:30 am |
Coffee Break
|
10:30 am - 10:45 am |
Selected from Poster Abstracts: Katherine Cygnar (Regeneron Pharmaceuticals, USA)
"Engineering Tissue Specific Delivery of Enzymes for Lysosomal Storage Disease Treatment"
|
10:45 am - 10:50 am |
Discussion
|
10:50 am - 11:10 am |
Charles Vite (University of Pennsylvania, USA)
"Preclinical
Therapy Trials in Canine and Feline Models"
|
11:10 am - 11:20 am |
Discussion
|
11:20 am - 11:35 am |
Selected from Poster Abstracts: Cristin Davidson (Albert Einstein College of Medicine, USA)
"Long Term Efficacy of Different Cyclodextrins for the Treatment of Niemann-Pick Type C Disease"
|
11:35 am - 11:40 am |
Discussion
|
11:40 am - 12:00 pm |
Kim Hemsley (South Australian Health and Medical Research Institute, Australia)
"CNS-Directed Enzyme Replacement Therapy"
|
12:00 pm - 12:10 pm |
Discussion
|
12:10 pm - 12:30 pm |
General Discussion
|
12:30 pm - 1:30 pm |
Lunch
|
1:30 pm - 4:30 pm |
Free Time
|
4:30 pm - 6:00 pm |
Poster Session
|
6:00 pm - 8:00 pm |
Diagnostics and Biomarkers
for LSDs
Discussion Leaders: Joe Clarke (Hospital for Sick Children / University of Toronto, Canada) and John Hopwood (South Australian Health and Medical Research Institute, Australia)
|
6:00 pm - 6:20 pm |
Hans Aerts (Leiden University, The Netherlands)
"Catalysis by Lysosomal Glycosidase Re-Visited with Activity-Based Probes"
|
6:20 pm - 6:30 pm |
Discussion
|
6:30 pm - 6:50 pm |
Selected from Poster Abstracts: Michael Ward (National Institutes of Health, USA)
"Clinicopathological Features of Neuronal Ceroid Lipofuscinosis Occur in Humans with Progranulin Haploinsufficiency"
|
6:50 pm - 7:00 pm |
Discussion
|
7:00 pm - 7:15 pm |
Selected from Poster Abstracts: Susan Cotman (Massachusetts General Hospital, USA)
"Whole Exome Sequencing as a Tool for Undiagnosed NCL-Like Cases: Outcomes and Challenges"
|
7:15 pm - 7:20 pm |
Discussion
|
7:20 pm - 7:35 pm |
Selected from Poster Abstracts: Wendy Heywood (University College London, United Kingdom)
"Collagen Degradation Products Can Disease Stratify Mucopolysaccaroidoses Disorders"
|
7:35 pm - 7:40 pm |
Discussion
|
7:40 pm - 8:00 pm |
General Discussion
|
8:00 pm - 9:00 pm |
Dinner
|
Thursday
|
7:30 am - 8:30 am |
Breakfast
|
8:30 am - 9:00 am |
Business Meeting
Nominations for the Next Vice Chair; Fill in Conference Evaluation Forms; Discuss Future Site and Scheduling Preferences; Election of the Next Vice Chair
|
9:00 am - 12:30 pm |
Ongoing and Upcoming
Clinical Trials
Discussion Leaders: Brian Bigger (University of Manchester, United Kingdom) and Timothy Cox (University of Cambridge, United Kingdom)
|
9:00 am - 9:20 am |
Gregory Pastores (University College Dublin, Ireland)
"Therapeutic Options,
Current Perspective, Future Prospects"
|
9:20 am - 9:30 am |
Discussion
|
9:30 am - 9:50 am |
Angela Schulz (University of Hamburg, Germany)
"Intracerebroventricular Cerliponase Alfa (BMN
190) in Children with CLN2 Disease: Results from a Phase 1/2, Open-Label,
Dose-Escalation Study and Extension Study"
|
9:50 am - 10:00 am |
Discussion
|
10:00 am - 10:30 am |
Coffee Break
|
10:30 am - 10:45 am |
Selected from Poster Abstracts: Alberto Auricchio (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
"Gene Therapy of Mucopolysaccaridosis Type VI"
|
10:45 am - 10:50 am |
Discussion
|
10:50 am - 11:10 am |
Fatima Bosch (Autonomous University of Barcelona, Spain)
"Gene Therapies for Neurologic and Somatic
Mucopolysaccharidosis"
|
11:10 am - 11:20 am |
Discussion
|
11:20 am - 11:35 am |
Selected from Poster Abstracts: Helene Gleitz (University of Manchester, United Kingdom)
"Whole Body Correction of Severe Mucopolysaccharidosis Type II by Lentiviral-Mediated Stem Cell Gene Therapy with Blood-Brain Barrier-Crossing Peptides"
|
11:35 am - 11:40 am |
Discussion
|
11:40 am - 12:00 pm |
Roberto Giugliani (Federal University of Rio Grande do Sul, Brazil)
"Different
Approaches to Estimate the Incidence of LSDs"
|
12:00 pm - 12:10 pm |
Discussion
|
12:10 pm - 12:30 pm |
General Discussion
|
12:30 pm - 1:30 pm |
Lunch
|
1:30 pm - 4:30 pm |
Free Time
|
4:30 pm - 6:00 pm |
Poster Session
|
6:00 pm - 8:00 pm |
Late-Breaking Topics
To be selected from both the GRC and GRS.
Discussion Leaders: Nicola Brunetti-Pierri (Telethon Institute of Genetics and Medicine (TIGEM), Italy) and Thomas Braulke (University Medical Center Hamburg-Eppendorf, Germany)
|
6:00 pm - 6:15 pm |
Selected from Poster Abstracts: Elena Pavlova (University of Cambridge, United Kingdom)
"An Unexplained Lysosomal Disease Due to Mutant VP33A and Impaired HOPS Complex Dynamics"
|
6:15 pm - 6:20 pm |
Discussion
|
6:20 pm - 6:35 pm |
Selected from Poster Abstracts: Yael Pewzner-Jung (Weizmann Institute of Science, Israel)
"An Inducible Gaucher Disease (GD) Mouse Model Representing Chronic GD Type 3 Pathology"
|
6:35 pm - 6:40 pm |
Discussion
|
6:40 pm - 6:55 pm |
Selected from Poster Abstracts: Tatyana Danyukova (University Medical Center Hamburg-Eppendorf, Germany)
"SILAC-Based Comparative Proteomics Reveals Dysregulation of Soluble Lysosomal Proteins in a Cell-Based Model for CLN7 Disease"
|
6:55 pm - 7:00 pm |
Discussion
|
7:00 pm - 7:15 pm |
Selected from Poster Abstracts: Ying Sun (Cincinnati Children's Hospital Medical Center, USA)
"Systemic CNS-Delivery of Glucocerebrosidase by SapC-DOPS Nanovesicles for Neuronopathic Gaucher Disease Therapy"
|
7:15 pm - 7:20 pm |
Discussion
|
7:20 pm - 7:35 pm |
Selected from Poster Abstracts: Rosa Bartolomeo (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
"Targeting mTORC1 and Autophagy as New Therapy for Lysosomal Storage Disorders"
|
7:35 pm - 7:40 pm |
Discussion
|
7:40 pm - 7:55 pm |
Selected from Poster Abstracts: Renata Voltolini Velho (University Medical Center Hamburg-Eppendorf, Germany)
"Regulation of Site-1 Protease-Mediated Cleavage of the Glcnac-1-Phosphotransferase"
|
7:55 pm - 8:00 pm |
Discussion
|
8:00 pm - 9:00 pm |
Dinner
|
Friday
|
7:30 am - 8:30 am |
Breakfast
|
9:00 am |
Departure
|