Saturday
1:30 pm - 4:30 pm
Arrival and Check-in
3:00 pm - 3:15 pm
Introductory Comments by GRC Site Staff / Welcome from the GRS Chair
3:15 pm - 4:00 pm
Keynote Session: Latest Understanding in the Biology of Lysosomal Storage Diseases
Discussion Leader: Gennaro Napolitano (TIGEM - Telethon Institute of Genetics and Medicine, Italy)
3:15 pm - 3:55 pm
Timothy Cox (University of Cambridge, United Kingdom)
"Lysosomes: Coincidence, Convergence and Providence"
3:55 pm - 4:00 pm
Discussion
4:00 pm - 5:30 pm
Poster Session
5:30 pm - 7:30 pm
Basic Biology of Lysosomal Function
Discussion Leader: Doris Hoeglinger (University of Oxford, United Kingdom)
5:30 pm - 5:45 pm
Anna Brown (Oregon State University, USA)
"Use of DSPE-PEG Micelles to Enable Efflux of Lipid Aggregates in Late Endosomes/Lysosomes"
5:45 pm - 5:50 pm
Discussion
5:50 pm - 6:05 pm
Pablo Contreras (Pontificia Universidad Catolica de Chile, Chile)
"c-Abl Mediates Tyrosine TFEB Phosphorylation and Its Cytoplasmic Localization: Implications in the NPC Cholesterol Lysosomal Storage Disease"
6:05 pm - 6:10 pm
Discussion
6:10 pm - 6:25 pm
Saskia Heybrock (Christian-Albrechts-University Kiel, Germany)
"Role of the Lysosomal Integral Membrane Protein Type 2 in Lysosomal Cholesterol Transport"
6:25 pm - 6:30 pm
Discussion
6:30 pm - 6:45 pm
Yang Li (Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, China)
"Natural Compounds as Probes to Dissect Lysosome Homeostasis"
6:45 pm - 6:50 pm
Discussion
6:50 pm - 7:05 pm
Leopoldo Staiano (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
"OCRL Controls a Lysosomal Response Triggered by Autophagosome-Lysosome Fusion"
7:05 pm - 7:10 pm
Discussion
7:10 pm - 7:25 pm
Renata Voltolini Velho (University Medical Center Hamburg-Eppendorf, Germany)
"Regulation of Site-1 Protease-Mediated Cleavage of the GlcNAc-1-Phosphotransferase"
7:25 pm - 7:30 pm
Discussion
8:00 pm - 9:00 pm
Dinner
Sunday
7:30 am - 8:30 am
Breakfast
9:00 am - 11:00 am
Diseases Mechanisms and Therapeutic Strategies in Lysosomal Storage Disorders
Discussion Leader: Luis Tecedor (Children's Hospital of Philadelphia, USA)
9:00 am - 9:15 am
Rosa Bartolomeo (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
"Targeting mTORC1 and Autophagy as New Therapy for Lysosomal Storage Disorders"
9:15 am - 9:20 am
Discussion
9:20 am - 9:35 am
Alana Gibson (National Human Genome Research Institute, NIH, USA)
"Systemic AAV9 Gene Therapy Improves the Lifespan of Mice with Niemann-Pick Disease, Type C1"
9:35 am - 9:40 am
Discussion
9:40 am - 9:55 am
Helene Gleitz (University of Manchester, United Kingdom)
"Whole Body Correction of Severe Mucopolysaccharidosis Type II by Lentiviral-Mediated Stem Cell Gene Therapy with Blood-Brain Barrier-Crossing Peptides"
9:55 am - 10:00 am
Discussion
10:00 am - 10:15 am
Natalia Gomez-Ospina (Stanford University, USA)
"Correction of Mucopolysaccharidosis Type 1: Targeting Safe Harbor Loci Using Genome Editing"
10:15 am - 10:20 am
Discussion
10:20 am - 10:35 am
James Gray (University of Oxford, United Kingdom)
"Mechanisms of Remyelination Following Heat Shock Protein Treatment in Niemann-Pick Type C Mouse"
10:35 am - 10:40 am
Discussion
10:40 am - 10:55 am
Jlenia Monfregola (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
"Generation of a Lysosomal Storage Disorder CRISPr Biobank for the Study of Lysosomal Storage Disorders"
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 - 1:30 pm
Lunch
1:30 pm - 2:30 pm
Mentorship Component: Career Mentoring
Session
Discussion Leaders: Stephanie Cologna (University of Illinois at Chicago, USA) and Mylene Huebecker (University of Oxford, United Kingdom)
1:30 pm - 2:30 pm
Panel Discussion
What Options Do I Have for My Scientific Career?
Thomas Braulke (University Medical Center Hamburg-Eppendorf, Germany)
Nicola Brunetti-Pierri (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
Graciana Diez Roux (Telethon Institute of Genetics and Medicine (TIGEM), Italy)
Susan Kalled (Shire, USA)
2:30 pm - 3:00 pm
Evaluation Period
Fill in GRS Evaluation Forms
3:00 pm
Seminar Concludes
