Lysosomal Diseases Understanding and Treating Diseases That Involve Lysosomal Dysfunction



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.

+ show speakers and program
SUNDAY
4:00 pm - 8:00 pm Arrival and Check-in (Check-in Desk Closed 6:00 pm - 7:45 pm)
6:00 pm Dinner
7:30 pm - 7:40 pm Welcome / Introductory Comments by GRC Site Staff
7:40 pm - 9:30 pm Past, present and future
Chair: Fran Platt (Oxford, UK)
Discussion Leader: Steve Walkley (New York, USA)
7:40 pm - 7:50 pm Chair's Opening Remarks
7:50 pm - 8:30 pm Bill Sly (St. Louis University, USA)
"The road to therapy for LSDs: Looking back and gazing forward"
8:30 pm - 8:40 pm Discussion
8:40 pm - 9:20 pm Andrea Ballabio (TIGEM, Naples, Italy)
"Signals from Lysosomes"
9:20 pm - 9:30 pm Discussion
9:30 pm - 10:30 pm Drinks Reception
MONDAY
7:30 am - 8:30 am Breakfast
9:00 am - 12:30 pm Lysosome Biology
Chair: Paul Luzio (Cambridge, UK)
Discussion Leader: Antony Galione (Oxford, UK)
9:00 am - 9:10 am Chair's Opening Remarks
9:10 am - 9:30 am TBA
9:30 am - 9:40 am Discussion
9:40 am - 9:55 am TBA (Short talk selected from abstracts)
9:55 am - 10:00 am Discussion
10:00 am Group Photo / Coffee Break
10:30 am - 10:50 am Rosa Puertollano (NIH, USA)
"Lysosomes as novel regulators of gene expression, organelle biogenesis and autophagy induction"
10:50 am - 11:00 am Discussion
11:00 am - 11:20 am Paul Saftig (Kiel, Germany)
"New insights into functions of lysosomal membrane proteins"
11:20 am - 11:30 am Discussion
11:30 am - 11:45 am TBA (Short talk selected from abstracts)
11:45 am - 11:55 am Discussion
11:55 am - 12:10 pm TBA (Short talk selected from abstracts)
12:10 pm - 12:20 pm Discussion
12:20 pm - 12:30 pm Discussion Leader's Comments
12:30 pm Lunch
1:30 pm - 4:00 pm Free Time
4:00 pm - 5:30 pm Poster Session
5:30 pm - 7:30 pm Hot Topics
Chair: Dan Ory (St Louis, USA))
Discussion Leader: Maurizio Scarpa (Padova, Italy)
5:30 pm - 5:40 pm Chair's Opening Remarks
5:40 pm - 6:00 pm TBA
6:00 pm - 6:10 pm Discussion
6:10 pm - 6:30 pm TBA
6:30 pm - 6:40 pm Discussion
6:40 pm - 7:00 pm TBA
7:00 pm - 7:10 pm Discussion
7:10 pm - 7:25 pm TBA
7:25 pm - 7:30 pm Discussion
8:00 pm Dinner
TUESDAY
7:30 am - 8:30 am Breakfast
9:00 am - 12:30 pm Pathogenesis: Lysosomal Diseases
Chair: Sandra D'Azzo (Memphis, USA)
Discussion Leader: Ed Schuchman (New York, USA)
9:00 am - 9:10 am Chair's Opening Remarks
9:10 am - 9:30 am Tony Futerman (Weizmann Institute, Israel)
"Mechanisms of neuronal cell death in type 2 Gaucher disease"
9:30 am - 9:40 am Discussion
9:40 am - 9:55 am TBA (Short talk selected from abstracts)
9:55 am - 10:00 am Discussion
10:00 am Coffee Break
10:30 am - 10:50 am Juan Botas (Houston, USA)
"Drosophila Models of Lysosomal Disorders"
10:50 am - 11:00 am Discussion
11:00 am - 11:20 am Rafael 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 am Discussion
11:30 am - 11:45 am TBA (Short talk selected from abstracts)
11:45 am - 11:55 am Discussion
11:55 am - 12:10 pm TBA (Short talk selected from abstracts)
12:10 pm - 12:20 pm Discussion
12:20 pm - 12:30 pm Discussion Leader's Comments
12:30 pm Lunch
1:30 pm - 4:00 pm Free Time
4:00 pm - 5:30 pm Poster Session
5:30 pm - 7:30 pm Poster Talks
Chair: Jon Cooper (London, UK)
Discussion Leader: Yiannis Ioannou (New York, USA)
5:30 pm - 5:35 pm TBA
5:35 pm - 5:40 pm Discussion
5:40 pm - 5:45 pm TBA
5:45 pm - 5:50 pm Discussion
5:50 pm - 5:55 pm TBA
5:55 pm - 6:00 pm Discussion
6:00 pm - 6:05 pm TBA
6:05 pm - 6:10 pm Discussion
6:10 pm - 6:15 pm TBA
6:15 pm - 6:20 pm Discussion
6:20 pm - 6:25 pm TBA
6:25 pm - 6:30 pm Discussion
6:30 pm - 6:35 pm TBA
6:35 pm - 6:40 pm Discussion
6:40 pm - 6:45 pm TBA
6:45 pm - 6:50 pm Discussion
6:50 pm - 6:55 pm TBA
6:55 pm - 7:00 pm Discussion
7:00 pm - 7:05 pm TBA
7:05 pm - 7:10 pm Discussion
7:10 pm - 7:30 pm Presentation of GRS Prizes and concluding remarks
8:00 pm Dinner
WEDNESDAY
7:30 am - 8:30 am Breakfast
9:00 am - 12:30 pm Lysosome-related organelles in health and disease
Chair: Bill Gall (NIH, USA)
Discussion Leader: Mickey Marks (Philadelphia, USA)
9:00 am - 9:10 am Chair's Opening Remarks
9:10 am - 9:30 am Graca Raposo (CNRS, France)
"Melanosome biogenesis in health and disease"
9:30 am - 9:40 am Discussion
9:40 am - 9:55 am TBA (Short talk selected from abstracts)
9:55 am - 10:00 am Discussion
10:00 am Coffee Break
10:30 am - 10:50 am Sidney Whiteheart (Kentucky, USA)
"Platelet Exocytosis: From disease to mechanism and back"
10:50 am - 11:00 am Discussion
11:00 am - 11:20 am Andrew Cullinane (NIH, USA)
"New insights into BLOC-1 function and new therapy for Chediak-Higashi Disease"
11:20 am - 11:30 am Discussion
11:30 am - 11:45 am TBA (Short talk selected from abstracts)
11:45 am - 11:55 am Discussion
11:55 am - 12:10 pm TBA (Short talk selected from abstracts)
12:10 pm - 12:20 pm Discussion
12:20 pm - 12:30 pm Discussion Leader's Comments
12:30 pm Lunch
1:30 pm - 4:00 pm Free Time
4:00 pm - 5:30 pm Poster Session
5:30 pm - 7:30 pm Links to other diseases
Chair: Ellen Sidransky (NIH, USA)
Discussion Leader: Randy Nixon (New York, USA)
5:30 pm - 5:40 pm Chair's Opening Remarks
5:40 pm - 6:00 pm Dmitri Krainc (Harvard, USA)
"Lysosomal dysfunction in neurodegeneration: focus on Parkinson's disease"
6:00 pm - 6:10 pm Discussion
6:10 pm - 6:30 pm Patricia Boya (Madrid, Spain)
"Lysosomal pathways, links to neurodegeneration and ageing"
6:30 pm - 6:40 pm Discussion
6:40 pm - 6:55 pm TBA
6:55 pm - 7:00 pm Discussion
7:00 pm - 7:15 pm TBA
7:15 pm - 7:20 pm Discussion
7:20 pm - 7:30 pm Concluding Remarks (Discussion leader)
7:30 pm - 8:00 pm Business 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 pm Dinner
THURSDAY
7:30 am - 8:30 am Breakfast
9:00 am - 12:30 pm Experimental Therapies and Clinical Studies
Chair: Mark Haskins (Philadelphia, USA)
Discussion Leader: Cynthia Tifft (NIH, USA)
9:00 am - 9:10 am Chair's Opening Remarks
9:10 am - 9:30 am Tim Cox (Cambridge, UK)
"Gene Therapy for Tay-Sachs Disease"
9:30 am - 9:40 am Discussion
9:40 am - 9:55 am TBA (Short talk selected from abstracts)
9:55 am - 10:00 am Discussion
10:00 am Coffee Break
10:30 am - 10:50 am Denny Porter (NIH, USA)
"Development of a HPBCD trial for NPC1"
10:50 am - 11:00 am Discussion
11:00 am - 11:20 am Jeff Medin (Toronto, Canada)
"Updates on Development and Implementation of Gene Therapy for Fabry Disease"
11:20 am - 11:30 am Discussion
11:30 am - 11:45 am TBA (Short talk selected from abstracts)
11:45 am - 11:55 am Discussion
11:55 am - 12:10 pm TBA (Short talk selected from abstracts)
12:10 pm - 12:20 pm Discussion
12:20 pm - 12:30 pm Discussion Leader's Comments
12:30 pm Lunch
1:30 pm - 4:00 pm Free Time
4:00 pm - 5:30 pm Poster Session
5:30 pm - 7:30 pm Future of LSDs
Chair: Steve Walkley (New York, USA)
Discussion Leader: Bev Davidson (Iowa, USA)
5:30 pm - 6:00 pm TBA
6:00 pm - 6:10 pm Discussion
6:10 pm - 6:40 pm TBA
6:40 pm - 6:50 pm Discussion
6:50 pm - 7:20 pm Roscoe Brady (NIH, USA)
"The Last Word on Lysosomal Disorders"
7:20 pm - 7:30 pm Discussion
8:00 pm Dinner
FRIDAY
7:30 am - 8:30 am Breakfast
9:00 am Departure

14 Apr - 19 Apr 2013
Barga
Italy
meeting website