Gordon Research Conferences
PI_Conferences PI_Conferences_Past
Conference Program
 
Lysosomal Diseases
Understanding and Treating Diseases That Involve Lysosomal Dysfunction
April 14-19, 2013
Renaissance Tuscany Il Ciocco Resort
Lucca (Barga), Italy
Chair:
Frances Platt

Vice Chair:
Steven U. Walkley

Related Meeting Information
The Lysosomal Diseases Gordon Research Conference was held in conjunction with the Lysosomal Diseases Gordon-Merck Research Seminar. Please refer to the Lysosomal Diseases GMRS web page for more information.

Ever since their discovery by de Duve, there has been great interest in the role of lysosomes in disease. Lysosomal storage disorders, of which more than 50 are known, are caused by defects in proteins critical to lysosomal function, which lead to 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) how the cascade of events emanating from lysosomal dysfunction leads to cell dysfunction and clinical disease remains poorly understood.

This second Gordon Research Conference on Lysosomal Disease (the first very successful, meeting was held in Galveston, Texas in 2011) will have cutting-edge research sessions on topics ranging from the basic science of lysosomal biology to disease cascades and new therapies for specific diseases. Sessions will focus on molecular and cellular pathogenesis, the relationships of lysosomal diseases to other disorders, biomarker development, innovative approaches to therapy, and clinical trials and design. There will also be a hot topics session (with speakers chosen closer to the time of the meeting so as to include the most recent developments) and a poster session (with short poster talks selected on the basis of interest generated during these sessions). Additionally, a number of short talks will be chosen prior to the meeting based on abstract submissions.

The collegial atmosphere of this Conference, as well as the opportunities for informal afternoon/evening gatherings, provides an environment in which scientists from different backgrounds may interact and which promotes cross-disciplinary collaborations in the various research areas represented.


Contributors

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 pmPast, present and future
Chair: Fran Platt (Oxford, UK)
Discussion Leader: Steve Walkley (New York, USA)
7:40 pm - 7:50 pmChair's Opening Remarks
7:50 pm - 8:30 pmBill Sly (St. Louis University, USA)
"The road to therapy for LSDs: Looking back and gazing forward"
8:30 pm - 8:40 pmDiscussion
8:40 pm - 9:20 pmAndrea Ballabio (TIGEM, Naples, Italy)
"Signals from Lysosomes"
9:20 pm - 9:30 pmDiscussion
9:30 pm - 10:30 pmDrinks Reception
MONDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmLysosome Biology
Chair: Paul Luzio (Cambridge, UK)
Discussion Leader: Antony Galione (Oxford, UK)
9:00 am - 9:10 amChair's Opening Remarks
9:10 am - 9:30 amThomas Braulke (Hamburg, Germany)
"Mucolipidosis II - life without mannose 6-phosphate"
9:30 am - 9:40 amDiscussion
9:40 am - 9:55 am Michael Schwake (University of Bielefeld, Germany)
"LIMP-2 and glucocerebrosidase, hand in hand to lysosomes"
9:55 am - 10:00 amDiscussion
10:00 amGroup Photo / Coffee Break
10:30 am - 10:50 amRosa Puertollano (NIH, USA)
"Lysosomes as novel regulators of gene expression, organelle biogenesis and autophagy induction"
10:50 am - 11:00 amDiscussion
11:00 am - 11:20 amPaul Saftig (Kiel, Germany)
"New insights into functions of lysosomal membrane proteins"
11:20 am - 11:30 amDiscussion
11:30 am - 11:45 amEva Glixner (University of Freiburg, Germany)
"Manipulating V-ATPase activity in Drosophila leads to endolysosomal defects associated with altered JNK and TOR signaling"
11:45 am - 11:55 amDiscussion
11:55 am - 12:10 pmJavier Irazoqui (Massachusetts General Hospital, USA)
"C. elegans TFEB orchestrates autophagy, lysosomal biogenesis, and host defense against infection"
12:10 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmDiscussion Leader's Comments
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 5:30 pmPoster Session
5:30 pm - 7:30 pmHot Topics
Chair: Dan Ory (St Louis, USA)
Discussion Leader: Maurizio Scarpa (Padova, Italy)
5:30 pm - 5:40 pmChair's Opening Remarks
5:40 pm - 6:00 pmSandra D'Azzo (St Jude's, Memphis, USA)
"Alzheimer's-like Amyloidosis Linked to Lysosomal NEU1 Deficiency"
6:00 pm - 6:10 pmDiscussion
6:10 pm - 6:30 pmTyler Pierson (Cedars-Sinai Medical Center)
"Hereditary spastic paraplegias types 15 and 11 are associated with lysosomal abnormalities"
6:30 pm - 6:40 pmDiscussion
6:40 pm - 7:00 pmMatt Micsenyi (Albert Einstein College of Medicine, USA)
"Lysosomal Membrane Permeability Stimulates Protein Aggregate Formation in Lysosomal Disease"
7:00 pm - 7:10 pmDiscussion
7:10 pm - 7:25 pmBarry Boland (University College Cork, Ireland)
"The metabolism of amyloid precursor protein (APP) differs under conditions of primary and secondary lysosomal flux impairment"
7:25 pm - 7:30 pmDiscussion
8:00 pmDinner
TUESDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmPathogenesis: Lysosomal Diseases
Chair: Sandra D'Azzo (Memphis, USA)
Discussion Leader: Volkmar Gieselmann (University of Bonn, Germany)
9:00 am - 9:10 amChair's Opening Remarks
9:10 am - 9:30 amTony Futerman (Weizmann Institute, Israel)
"Mechanisms of neuronal cell death in type 2 Gaucher disease"
9:30 am - 9:40 amDiscussion
9:40 am - 9:55 am Chiara Di Malta (Telethon Institute of Genetics, Italy)
"Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder"
9:55 am - 10:00 amDiscussion
10:00 amCoffee Break
10:30 am - 10:50 amJuan Botas (Houston, USA)
"Drosophila Models of Lysosomal Disorders"
10:50 am - 11:00 amDiscussion
11:00 am - 11:20 amRafael Fernández-Chacón (Seville, Spain)
"Neuronal ceroid lipofuscinosis type 4 and synaptic degeneration in the absence of CSP-alpha in mice"
11:20 am - 11:30 amDiscussion
11:30 am - 11:45 amYulia Grishchuck (Massachusetts General Hospital, USA)
"Synaptic dysfunction and early neuropathology in the mouse model of Mucolipidosis type IV"
11:45 am - 11:55 amDiscussion
11:55 am - 12:10 pmRaffi Schiffmann (Baylor Research Institute, USA)
"The Role of Globotriaosylceramide in Fabry and Non-Fabry Heart Disease"
12:10 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmDiscussion Leader's Comments
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 5:30 pmPoster Session
5:30 pm - 7:30 pmLinks to other diseases
Chair: Ellen Sidransky (NIH, USA)
Discussion Leader: Randy Nixon (New York, USA)
5:30 pm - 5:40 pmChair's Opening Remarks
5:40 pm - 6:00 pmDmitri Krainc (Harvard, USA)
"Lysosomal dysfunction in neurodegeneration: focus on Parkinson's disease"
6:00 pm - 6:10 pmDiscussion
6:10 pm - 6:30 pmNatalia Rodriguez-Muela (CSIC, Madrid, Spain and Harvard University)
"Lysosomal pathways, links to neurodegeneration and ageing"
6:30 pm - 6:40 pmDiscussion
6:40 pm - 6:55 pmChris Wassif (NIH, USA)
"Sterol precursors induce Niemann-Pick C disease phenotypes in Smith-Lemli-Opitz Syndrome that is corrected by imino-sugars"
6:55 pm - 7:00 pmDiscussion
7:00 pm - 7:15 pmPaul Fineran (University of Oxford, UK)
"Pathogenic mycobacteria avoid clearance from host macrophages via lipid-mediated inhibition of the Niemann-Pick Type C disease pathway"
7:15 pm - 7:20 pmDiscussion
7:20 pm - 7:30 pmConcluding Remarks (Discussion leader)
8:00 pmDinner
WEDNESDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmLysosome-related organelles in health and disease
Chair: Bill Gahl (NIH, USA)
Discussion Leader: Mickey Marks (Philadelphia, USA)
9:00 am - 9:10 amChair's Opening Remarks
9:10 am - 9:30 amGraca Raposo (CNRS, France)
"Melanosome biogenesis in health and disease"
9:30 am - 9:40 amDiscussion
9:40 am - 9:55 am Carmine Septembre (Fondazione Telethon, Italy)
"A RANKL-PKCβ-TFEB Signaling Cascade is Necessary for Lysosomal Biogenesis in Osteoclasts"
9:55 am - 10:00 amDiscussion
10:00 amCoffee Break
10:30 am - 10:50 amSidney Whiteheart (Kentucky, USA)
"Platelet Exocytosis: From disease to mechanism and back"
10:50 am - 11:00 amDiscussion
11:00 am - 11:20 amAndrew Cullinane (NIH, USA)
"New insights into BLOC-1 function and new therapy for Chediak-Higashi Disease"
11:20 am - 11:30 amDiscussion
11:30 am - 11:45 amAndrew Hellewell (University of Leeds, UK)
"Secretory Lysosomes in Disease: Using Familial Haemophagocytic Lymphohistiocytosis-4 (FHL-4) Disease-Linked Mutations to Dissect the Role of Syntaxin 11 in Secretory Lysosome Exocytosis"
11:45 am - 11:55 amDiscussion
11:55 am - 12:10 pmCedric Delevoye (Curie Institute, France)
"BLOC-1 and KIF13A cooperate during melanosome biogenesis"
12:10 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmDiscussion Leader's Comments
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 5:30 pmPoster Session
5:30 pm - 7:30 pmPoster Talks
Chair: Jon Cooper (London, UK)
Discussion Leader: Yiannis Ioannou (New York, USA)
5:30 pm - 5:35 pmTBA
5:35 pm - 5:40 pmDiscussion
5:40 pm - 5:45 pmTBA
5:45 pm - 5:50 pmDiscussion
5:50 pm - 5:55 pmTBA
5:55 pm - 6:00 pmDiscussion
6:00 pm - 6:05 pmTBA
6:05 pm - 6:10 pmDiscussion
6:10 pm - 6:15 pmTBA
6:15 pm - 6:20 pmDiscussion
6:20 pm - 6:25 pmTBA
6:25 pm - 6:30 pmDiscussion
6:30 pm - 6:35 pmTBA
6:35 pm - 6:40 pmDiscussion
6:40 pm - 6:45 pmTBA
6:45 pm - 6:50 pmDiscussion
6:50 pm - 6:55 pmTBA
6:55 pm - 7:00 pmDiscussion
7:00 pm - 7:05 pmTBA
7:05 pm - 7:10 pmDiscussion
7:10 pm - 7:15 pmTBA
7:15 pm - 7:20 pmDiscussion
7:20 pm - 7:30 pmConcluding Remarks
7:30 pm - 8:00 pmBusiness Meeting
Nominations for the next Vice Chair; Fill out Conference Evaluation Forms; Discuss future Site & Scheduling preferences; Election of the next Vice Chair
8:00 pmDinner
THURSDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmExperimental Therapies and Clinical Studies
Chair: Mark Haskins (Philadelphia, USA)
Discussion Leader: Cynthia Tifft (NIH, USA)
9:00 am - 9:10 amChair's Opening Remarks
9:10 am - 9:30 amTim Cox (Cambridge, UK)
"Gene Therapy for Tay-Sachs Disease"
9:30 am - 9:40 amDiscussion
9:40 am - 9:55 am Nicolina Cristina Sorrentino (TIGEM, Italy)
"Engineering lysosomal enzymes to improve secretion and blood-brain barrier crossing: a novel therapeutic option to treat the CNS in LSDs"
9:55 am - 10:00 amDiscussion
10:00 amCoffee Break
10:30 am - 10:50 amDenny Porter (NIH, USA)
"Development of a HPBCD trial for NPC1"
10:50 am - 11:00 amDiscussion
11:00 am - 11:20 amJeff Medin (Toronto, Canada)
"Updates on Development and Implementation of Gene Therapy for Fabry Disease"
11:20 am - 11:30 amDiscussion
11:30 am - 11:45 amThomas Kirkegaard Jensen (Orphazyme, Denmark)
"rHSP70: A novel therapeutic opportunity for lysosomal storage diseases"
11:45 am - 11:55 amDiscussion
11:55 am - 12:10 pmAhad Rahim (UCL, London)
"In utero gene therapy rescue of an acute neonatal lethal mouse model of neuropathic Gaucher disease"
12:10 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmDiscussion Leader's Comments
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 5:30 pmPoster Session
5:30 pm - 7:30 pmFuture of LSDs
Chair: Steve Walkley (New York, USA)
Discussion Leader: Bev Davidson (Iowa, USA)
5:30 pm - 5:35 pmChair's Opening Remarks
5:35 pm - 6:05 pmElizabeth Neufeld (UCLA, USA)
"Therapies, the road ahead"
6:05 pm - 6:15 pmDiscussion
6:15 pm - 6:35 pmBill Gahl (NIH)
"Rare Disease and the FDA: Any light at the end of the tunnel?"
6:35 pm - 6:45 pmDiscussion
6:45 pm - 7:15 pmJohn Hardy (UCL, London)
"Links to other diseases; where will it all end?"
7:15 pm - 7:25 pmDiscussion
7:25 pm - 7:30 pmClosing Remarks (Bev Davidson)
7:30 pm - 8:00 pmFarewell Drinks Reception
8:30 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 R13NS083199. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

 
© 2014 Gordon Research Conferences Search | Contact | Terms of Use | Privacy Policy | Follow us: Facebook Twitter