| Saturday |
| 2:00 pm - 5:00 pm | Arrival and Check-in |
| 3:30 pm - 3:45 pm | Introductory Comments by GRC Site Staff / Welcome by the GRS Conference Chair |
| 3:45 pm - 4:30 pm | Keynote Session: Nearly Half a Century of Research on Lysosomal Diseases |
| Discussion Leader: Chiara Di Malta (Telethon Institute of Genetics and Medicine, Italy) |
| 3:45 pm - 3:50 pm | Opening Remarks |
| 3:50 pm - 4:25 pm | Elizabeth Neufeld (David Geffen School of Medicine at University of California, Los Angeles, USA)
"Lysosomal Diseases: The Road Traveled and the Road Ahead" |
| 4:25 pm - 4:30 pm | Discussion |
| 4:30 pm - 6:00 pm | Poster Session |
| 6:00 pm | Dinner |
| 7:30 pm - 9:30 pm | The Lysosomal System in Health and Disease |
| Discussion Leader: Andreas Klein (Weizmann Institute of Science, Israel) |
| 7:30 pm - 7:45 pm | Sarah Kluender (University Medical Center Hamburg-Eppendorf, Germany)
"Site-1 and Site-2 Protease-Dependent Transport of Lysosomal Enzymes" |
| 7:45 pm - 7:50 pm | Discussion |
| 7:50 pm - 8:05 pm | Mohammad Samie (Yale University School of Medicine, USA)
"Lysosomal Transcription Factor TFEB Acts as a Molecular Switch that Regulates Exogenous Antigen Presentation Pathways" |
| 8:05 pm - 8:10 pm | Discussion |
| 8:10 pm - 8:25 pm | Doris Hoeglinger (European Molecular Biology Laboratory, Germany)
"New Chemical Biology Tools to Explore Cellular Functions of Sphingosine in Health and Disease" |
| 8:25 pm - 8:30 pm | Discussion |
| 8:30 pm - 8:45 pm | Jeong-A Lim (NIAMS / National Institutes of Health, USA)
"A Novel Role for the Transcription Factor E3 (TFE3) in Muscle Cells: Implications for Pompe Disease" |
| 8:45 pm - 8:50 pm | Discussion |
| 8:50 pm - 9:05 pm | Nathan Okerlund (Stanford University / Palo Alto VA, USA)
"Bassoon and Piccolo Regulate Presynaptic Autophagy" |
| 9:05 pm - 9:10 pm | Discussion |
| 9:10 pm - 9:25 pm | Constanza Cortes (University of California, San Diego, USA)
"Polyglutamine-Expanded Androgen Receptor Interferes with TFEB to Elicit Autophagy Defects in SBMA" |
| 9:25 pm - 9:30 pm | Discussion |
| Sunday |
| 7:30 am - 8:30 am | Breakfast |
| 9:00 am - 11:00 am | Lysosomal Disease Pathogenesis and Therapeutic Strategies |
| Discussion Leader: Yulia Grishchuk (Massachusetts General Hospital / Harvard Medical School, USA) |
| 9:00 am - 9:15 am | Stephanie Cologna (National Institutes of Health, USA)
"Altered Cerebrospinal Fluid Proteins in Patients with Niemann-Pick Disease, Type C1" |
| 9:15 am - 9:20 am | Discussion |
| 9:20 am - 9:35 am | Andreas Klein (Weizmann Institute of Science, Israel)
"Genome Wide Association Studies in Mouse Models of Gaucher Disease Unraveled Novel Potential Modifier Genes of Disease Progression" |
| 9:35 am - 9:40 am | Discussion |
| 9:40 am - 9:55 am | Adeline Lau (Lysosomal Diseases Research Unit, Australia)
"Conditional SGSH Knockout Mice as a Novel Model of Mucopolysaccharidosis Type III" |
| 9:55 am - 10:00 am | Discussion |
| 10:00 am - 10:15 am | Christopher Wassif (NICHD / National Institutes of Health, USA)
"High Incidence of Unrecognized Visceral/Neurological Late-Onset Niemann-Pick Disease, Type C1 Predicted by Analysis of Massively Parallel Sequencing Data Sets" |
| 10:15 am - 10:20 am | Discussion |
| 10:20 am - 10:35 am | Marie Wang (Oregon Health and Science University, USA)
"Lysosomal Abnormality in Primary Oligodendrocytes from twi-5J and Twitcher Murine Models of Krabbe Disease" |
| 10:35 am - 10:40 am | Discussion |
| 10:40 am - 10:55 am | Friederike Zunke (University of Kiel, Germany)
"Characterization of the Interaction of β-glucocerebrosidase (GC) and Its Transport Receptor LIMP-2 - Implications for Treatment of GC-Associated Diseases" |
| 10:55 am - 11:00 am | Discussion |
| 11:00 am - 12:30 pm | Poster Session |
| Coffee will be served in the poster area from 11:00 am - 11:30 am |
| 12:30 pm | Lunch |
| 1:30 pm - 2:30 pm | Mentorship Component: Career Mentoring Session |
| Discussion Leaders: Mark Schultz (University of Michigan, USA) and Allison Bradbury (University of Pennsylvania, USA) |
| 1:30 pm - 2:30 pm | Panel Discussion |
|
- Beverly Davidson (Children's Hospital of Philadelphia, USA)
- Marc Patterson (Mayo Clinic, USA)
- Albert Seymour (Shire Pharmaceuticals, USA)
|
| 2:30 pm - 3:00 pm | Evaluation Period |
| Fill in GRS Evaluation Forms |
| 3:00 pm | Seminar Concludes |
