SUNDAY |
4:00 pm - 8:00 pm | Arrival and Check-in (Office 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 | History 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 am | Breakfast |
8:30 am | Group Photo |
9:00 am - 12:30 pm | Basic 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 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session |
6:00 pm | Dinner |
7:30 pm - 9:30 pm | Relationships 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 am | Breakfast |
9:00 am - 12:30 pm | Pathogenic 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 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session |
6:00 pm | Dinner |
7:30 pm - 9:30 pm | Biomarkers |
| 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 am | Breakfast |
9:00 am - 12:30 pm | Defective 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 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session |
6:00 pm | Dinner |
7:00 pm - 7:30 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) |
7:30 pm - 9:30 pm | Experimental 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 am | Breakfast |
9:00 am - 10:45 am | Hot 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 pm | Poster 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 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session |
6:00 pm | Dinner |
7:30 pm - 9:30 pm | Clinical 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 am | Breakfast |
9:00 am | Departure |