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Lysosomal Diseases
Gordon Research Conference

Understanding Lysosomal Biology and Disease Mechanisms to Develop New Therapies for Lysosomal Diseases

Dates

March 5-10, 2017

Location

Renaissance Tuscany Il Ciocco
Lucca (Barga), Italy

Organizers

Chair:
Andrea Ballabio

Vice Chair:
Beverly Davidson

Meeting Description

In the early '50s, Christian De Duve identified a new cellular structure, the lysosome, defined as the cell's "suicide bag". Sixty years later, it is clear that the lysosome greatly exceeded the expectations of its discoverer. Recent findings on the role of the lysosome in endocytosis, exocytosis, autophagy, nutrient sensing, signaling and on the mechanisms underlying lysosome positioning changed our traditional view of the lysosome from a dead-end organelle to a control center of cell homeostasis. Over 50 different types of lysosomal storage diseases have been identified, each due to the deficiency or malfunction of a specific lysosomal protein. These disorders affect many organ systems, most notably brain, leading to chronic illness and death of affected individuals. Although these diseases were among the first for which both the biochemical and the molecular basis were recognized, the mechanisms by which the accumulation of storage material in lysosomes translates into cellular and tissue dysfunction and clinical symptoms has yet to be fully elucidated. In addition, an important role of the lysosome has been unveiled in several common human diseases, such as cancer, obesity, neurodegenerative diseases, and infection, identifying a "new class" of lysosomal diseases. An important challenge for the future will be to exploit recent discoveries to better understand the mechanisms underlying lysosomal diseases and to develop new treatments. The Lysosomal Disease GRC aims to stimulate interactions among experts in the field to improve knowledge about the pathophysiology of lysosomal diseases and identify innovative diagnostic and treatment approaches. This fourth Gordon Research Conference on Lysosomal Diseases will be held at the Renaissance Tuscany Il Ciocco Resort in Lucca (Barga), Italy, which will offer a wonderful venue to address major topics in lysosomal biology, disease mechanisms, diagnosis and therapy.

Related Meeting

This GRC was held in conjunction with the "Lysosomal Diseases" Gordon Research Seminar (GRS). Refer to the associated GRS program page for more information.

Contributors

Meeting Program

Sunday
4:00 pm - 8:00 pmArrival and Check-in
6:00 pmDinner
7:30 pm - 7:40 pmWelcome / Introductory Comments by GRC Site Staff
7:40 pm - 9:30 pmKeynote 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)
7:40 pm - 7:50 pmOpening Remarks
7:50 pm - 7:55 pmIntroduction by Discussion Leader
7:55 pm - 8:35 pmScott 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 pmDiscussion
8:40 pm - 8:45 pmIntroduction by Discussion Leader
8:45 pm - 9:25 pmTom Kirchhausen (Harvard Medical School, USA)
"Cellular Dynamics Imaged in Real Time and in 3D"
9:25 pm - 9:30 pmDiscussion
Monday
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmLysosomal Positioning and Movement
Discussion Leader: J. Paul Luzio (Cambridge Institute for Medical Research, University of Cambridge, United Kingdom)
9:00 am - 9:20 amJuan 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 amDiscussion
9:30 am - 9:50 amAna-Maria Lennon-Dumenil (Institut Curie, France)
"Linking Lysosome Signaling to Cell Migration"
9:50 am - 10:00 amDiscussion
10:00 am - 10:30 amCoffee Break
10:30 am - 10:45 amSelected 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 amDiscussion
10:50 am - 11:10 amHarald Stenmark (Norwegian Radium Hospital, Norway)
"Lysosome Positioning and Disease"
11:10 am - 11:20 amDiscussion
11:20 am - 11:35 amSelected 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 amDiscussion
11:40 am - 12:00 pmGillian Griffiths (Cambridge Institute for Medical Research, University of Cambridge, United Kingdom)
"Diseases Affecting Lysosomal Function in Immune Cells"
12:00 pm - 12:10 pmDiscussion
12:10 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:30 pmFree Time
4:30 pm - 6:00 pmPoster Session
6:00 pm - 8:00 pmLysosomal 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 pmPaul Saftig (Christian Albrechts University of Kiel, Germany)
"Lysosomal Membrane Proteins in the Crosstalk Between the Cytosolic and Degradative World"
6:20 pm - 6:30 pmDiscussion
6:30 pm - 6:50 pmThomas 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 pmDiscussion
7:00 pm - 7:20 pmEmyr Lloyd-Evans (Cardiff University, United Kingdom)
"Insights into the Function of CLN3, a Novel Lysosomal Ion Channel"
7:20 pm - 7:30 pmDiscussion
7:30 pm - 7:45 pmSelected 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 pmDiscussion
7:50 pm - 8:00 pmGeneral Discussion
8:00 pmDinner
Tuesday
7:30 am - 8:30 amBreakfast
8:30 amGroup Photo
9:00 am - 12:30 pmMechanisms 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 amElina Ikonen (University of Helsinki, Finland)
"Endo-Lysosomal Lipid Transport Mechanisms"
9:20 am - 9:30 amDiscussion
9:30 am - 9:50 amThomas Braulke (University Medical Center Hamburg-Eppendorf, Germany)
"Lysosomal Dysfunction and Transcriptional Control"
9:50 am - 10:00 amDiscussion
10:00 am - 10:30 amCoffee Break
10:30 am - 10:45 amSelected from Poster Abstracts: Camila de Aragao (Centre Hospitalier Universitaire Sainte-Justine, Canada)
"Synaptic Dysfunction in Sanfilippo Type C Syndrome"
10:45 am - 10:50 amDiscussion
10:50 am - 11:10 amFrances Platt (University of Oxford, United Kingdom)
"Pathogenic Mechanisms in Niemann-Pick Type C Disease"
11:10 am - 11:20 amDiscussion
11:20 am - 11:35 amSelected 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 amDiscussion
11:40 am - 12:00 pmNuno Raimundo (University Medical Center Goettingen, Germany)
"Lysosomal Malfunction Impairs Mitochondria – A Unifying Mechanism in Lysosomal Storage Diseases"
12:00 pm - 12:10 pmDiscussion
12:10 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:30 pmFree Time
4:30 pm - 6:00 pmPoster Session
6:00 pm - 8:00 pmLysosomal Dysfunction in Diseases Other than LSDs
Discussion Leader: Tony Futerman (Weizmann Institute of Science, Israel)
6:00 pm - 6:20 pmRalph Nixon (NYU Langone Medical Center, USA)
"Lysosomal Acidification: Emerging Relevance to Neurodegenerative Disorders"
6:20 pm - 6:30 pmDiscussion
6:30 pm - 6:50 pmSeung-Jae Lee (Seoul National University, South Korea)
"The Role of Lysosomal Dysfunction in Propagation of Synucleinopathies"
6:50 pm - 7:00 pmDiscussion
7:00 pm - 7:20 pmJudith 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 pmDiscussion
7:30 pm - 7:45 pmSelected 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 pmDiscussion
7:50 pm - 8:00 pmGeneral Discussion
8:00 pmDinner
Wednesday
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmInnovative Therapies
Discussion Leaders: James Wilson (University of Pennsylvania, USA) and Alberto Auricchio (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
9:00 am - 9:20 amTimothy Cox (University of Cambridge, United Kingdom)
"Therapeutic Understanding in the Sphingolipidoses"
9:20 am - 9:30 amDiscussion
9:30 am - 9:50 amSilvia Muro (University of Maryland, College Park, USA)
"ICAM-1 Targeting and Nanocarrier-Based Delivery of Lysosomal Enzymes"
9:50 am - 10:00 amDiscussion
10:00 am - 10:30 amCoffee Break
10:30 am - 10:45 amSelected from Poster Abstracts: Katherine Cygnar (Regeneron Pharmaceuticals, USA)
"Engineering Tissue Specific Delivery of Enzymes for Lysosomal Storage Disease Treatment"
10:45 am - 10:50 amDiscussion
10:50 am - 11:10 amCharles Vite (University of Pennsylvania, USA)
"Preclinical Therapy Trials in Canine and Feline Models"
11:10 am - 11:20 amDiscussion
11:20 am - 11:35 amSelected 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 amDiscussion
11:40 am - 12:00 pmKim Hemsley (South Australian Health and Medical Research Institute, Australia)
"CNS-Directed Enzyme Replacement Therapy"
12:00 pm - 12:10 pmDiscussion
12:10 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:30 pmFree Time
4:30 pm - 6:00 pmPoster Session
6:00 pm - 8:00 pmDiagnostics 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 pmHans Aerts (Leiden University, The Netherlands)
"Catalysis by Lysosomal Glycosidase Re-Visited with Activity-Based Probes"
6:20 pm - 6:30 pmDiscussion
6:30 pm - 6:50 pmSelected 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 pmDiscussion
7:00 pm - 7:15 pmSelected 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 pmDiscussion
7:20 pm - 7:35 pmSelected from Poster Abstracts: Wendy Heywood (University College London, United Kingdom)
"Collagen Degradation Products Can Disease Stratify Mucopolysaccaroidoses Disorders"
7:35 pm - 7:40 pmDiscussion
7:40 pm - 8:00 pmGeneral Discussion
8:00 pmDinner
Thursday
7:30 am - 8:30 amBreakfast
8:30 am - 9:00 amBusiness 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 pmOngoing 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 amGregory Pastores (University College Dublin, Ireland)
"Therapeutic Options, Current Perspective, Future Prospects"
9:20 am - 9:30 amDiscussion
9:30 am - 9:50 amAngela 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 amDiscussion
10:00 am - 10:30 amCoffee Break
10:30 am - 10:45 amSelected from Poster Abstracts: Alberto Auricchio (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
"Gene Therapy of Mucopolysaccaridosis Type VI"
10:45 am - 10:50 amDiscussion
10:50 am - 11:10 amFatima Bosch (Autonomous University of Barcelona, Spain)
"Gene Therapies for Neurologic and Somatic Mucopolysaccharidosis"
11:10 am - 11:20 amDiscussion
11:20 am - 11:35 amSelected 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 amDiscussion
11:40 am - 12:00 pmRoberto Giugliani (Federal University of Rio Grande do Sul, Brazil)
"Different Approaches to Estimate the Incidence of LSDs"
12:00 pm - 12:10 pmDiscussion
12:10 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:30 pmFree Time
4:30 pm - 6:00 pmPoster Session
6:00 pm - 8:00 pmLate-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 pmSelected 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 pmDiscussion
6:20 pm - 6:35 pmSelected 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 pmDiscussion
6:40 pm - 6:55 pmSelected 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 pmDiscussion
7:00 pm - 7:15 pmSelected 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 pmDiscussion
7:20 pm - 7:35 pmSelected 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 pmDiscussion
7:40 pm - 7:55 pmSelected 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 pmDiscussion
8:00 pmDinner
Friday
7:30 am - 8:30 amBreakfast
9:00 amDeparture

Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under Award Number R13NS100248. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
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