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Saturday
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| 2:00 pm - 5:00 pm |
Arrival and Check-in
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| 3:30 pm - 3:45 pm |
Introductory Comments by GRC Site Staff / Welcome from the GRS Chair
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| 3:45 pm - 4:30 pm |
Keynote Session: Developing Therapeutical Strategies for Lysosomal Storage Diseases
Discussion Leader: Luis Tecedor (Children's Hospital of Philadelphia, USA)
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| 3:45 pm - 4:20 pm |
Andrew Lieberman (University of Michigan Medical School, USA)
"Unexpected Adventures in Lysosomal Disease Research"
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| 4:20 pm - 4:30 pm |
Discussion
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| 4:30 pm - 6:00 pm |
Poster Session
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| 6:00 pm - 7:00 pm |
Dinner
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| 7:30 pm - 9:30 pm |
Lysosomal Pathology: New Models, New Approaches
Discussion Leader: Mylene Huebecker (University of Oxford, United Kingdom)
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| 7:30 pm - 7:45 pm |
Rebecca Ahrens-Nicklas (The Children's Hospital of Philadelphia, USA)
"Neuronal Network Dysfunction in Juvenile Neuronal Ceroid Lipofuscinosis"
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| 7:45 pm - 7:50 pm |
Discussion
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| 7:50 pm - 8:05 pm |
Michael Hall (UCL Institute of Ophthalmology, United Kingdom)
"Modelling the Role of Lysosome Dysfunction in the Retinal Pigment Epithelium in the Development of Early Age-Related Macular Disease"
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| 8:05 pm - 8:10 pm |
Discussion
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| 8:10 pm - 8:25 pm |
Laura Hewson (The University of Adelaide, Australia)
"Using Drosophila melanogaster to Uncover Disease-Related Mechanisms of Sanfilippo Syndrome"
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| 8:25 pm - 8:30 pm |
Discussion
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| 8:30 pm - 8:45 pm |
Christina Mikulka (Washington University School of Medicine, USA)
"Cell-Autonomous Expression of the Lysosomal Hydrolase GALC: A New Model of Krabbe Disease"
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| 8:45 pm - 8:50 pm |
Discussion
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| 8:50 pm - 9:05 pm |
Hemanth Ramesh Nelvagal (Washington University School of Medicine, USA)
"Early Spinal Cord Vulnerability in CLN1 Disease Reveals an Important and Novel Therapeutic Target"
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| 9:05 pm - 9:10 pm |
Discussion
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| 9:10 pm - 9:25 pm |
Emily Coode (The Open University, United Kingdom)
"Broken Hearts in Juvenile Dementia: Investigating Cardiac Myocytes in CLN3 Disease"
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| 9:25 pm - 9:30 pm |
Discussion
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Sunday
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| 7:30 am - 8:30 am |
Breakfast
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| 9:00 am - 11:00 am |
Therapeutic Strategies in Lysosomal Storage Disorders
Discussion Leader: Elena-Raluca Nicoli (National Human Genome Research Institute, NIH, USA)
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| 9:00 am - 9:15 am |
Joshua Dearborn (Washington University in St. Louis School of Medicine, USA)
"Cannabidiol for the Treatment of Seizures in CLN1 Disease"
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| 9:15 am - 9:20 am |
Discussion
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| 9:20 am - 9:35 am |
Ecem Kaya (University of Oxford, United Kingdom)
"Acetyl Leucine as Novel Therapy for Lysosomal Storage Diseases"
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| 9:35 am - 9:40 am |
Discussion
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| 9:40 am - 9:55 am |
André Marques (University of Kiel, Germany)
"Enzyme Replacement Therapy with Recombinant Pro-Cathepsin-D Corrects Defective Proteolysis and Autophagy in Neuronal Ceroid Lipofuscinosis"
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| 9:55 am - 10:00 am |
Discussion
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| 10:00 am - 10:15 am |
Melissa Pergande (University of Illinois at Chicago, USA)
"Proteomic Analysis of Brain and Liver Tissues Reveals Altered Proteins in the Symptomatic Niemann-Pick, Type C1 Mouse Model"
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| 10:15 am - 10:20 am |
Discussion
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| 10:20 am - 10:35 am |
Jacob Cain (Sanford Research, USA)
"Identifying a Biomarker Signature for Batten Disease"
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| 10:35 am - 10:40 am |
Discussion
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| 10:40 am - 10:55 am |
Umut Cagin (Généthon, France)
"Deep Transcriptomic Analysis of Pompe Mice Treated with Liver Expression of Secretable GAA Reveals Significance of Bioenergetic Homeostasis"
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| 10:55 am - 11:00 am |
Discussion
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| 11:00 am - 12:30 pm |
Poster Session
Coffee will be served in the poster area from 11:00 am - 11:30 am
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| 12:30 pm - 1:30 pm |
Lunch
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| 1:30 pm - 2:30 pm |
Mentorship Component: Career Mentoring: Different Paths on the Science Track
Discussion Leader: Tyler Johnson (Pediatrics and Rare Diseases Group, Sanford Research, USA)
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| 1:30 pm - 2:30 pm |
Panel Discussion
Different Paths on the Science Track
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Seng Cheng (Pfizer, USA)
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Sandra Hofmann (University of Texas Southwestern Medical Center, USA)
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William Pavan (National Institutes of Health, USA)
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| 2:30 pm - 3:00 pm |
Evaluation Period
Fill in GRS Evaluation Forms
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| 3:00 pm |
Seminar Concludes
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