Saturday
2:00 pm - 5:00 pm
Arrival and Check-in
3:30 pm - 3:45 pm
Introductory Comments by GRC Site Staff / Welcome from the GRS Chair
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)
3:45 pm - 4:20 pm
Andrew Lieberman (University of Michigan Medical School, USA)
"Unexpected Adventures in Lysosomal Disease Research"
4:20 pm - 4:30 pm
Discussion
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Lysosomal Pathology: New Models, New Approaches
Discussion Leader: Mylene Huebecker (University of Oxford, United Kingdom)
7:30 pm - 7:45 pm
Rebecca Ahrens-Nicklas (The Children's Hospital of Philadelphia, USA)
"Neuronal Network Dysfunction in Juvenile Neuronal Ceroid Lipofuscinosis"
7:45 pm - 7:50 pm
Discussion
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"
8:05 pm - 8:10 pm
Discussion
8:10 pm - 8:25 pm
Laura Hewson (The University of Adelaide, Australia)
"Using Drosophila melanogaster to Uncover Disease-Related Mechanisms of Sanfilippo Syndrome"
8:25 pm - 8:30 pm
Discussion
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"
8:45 pm - 8:50 pm
Discussion
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"
9:05 pm - 9:10 pm
Discussion
9:10 pm - 9:25 pm
Emily Coode (The Open University, United Kingdom)
"Broken Hearts in Juvenile Dementia: Investigating Cardiac Myocytes in CLN3 Disease"
9:25 pm - 9:30 pm
Discussion
Sunday
7:30 am - 8:30 am
Breakfast
9:00 am - 11:00 am
Therapeutic Strategies in Lysosomal Storage Disorders
Discussion Leader: Elena-Raluca Nicoli (National Human Genome Research Institute, NIH, USA)
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"
9:15 am - 9:20 am
Discussion
9:20 am - 9:35 am
Ecem Kaya (University of Oxford, United Kingdom)
"Acetyl Leucine as Novel Therapy for Lysosomal Storage Diseases"
9:35 am - 9:40 am
Discussion
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"
9:55 am - 10:00 am
Discussion
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"
10:15 am - 10:20 am
Discussion
10:20 am - 10:35 am
Jacob Cain (Sanford Research, USA)
"Identifying a Biomarker Signature for Batten Disease"
10:35 am - 10:40 am
Discussion
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"
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: Different Paths on the Science Track
Discussion Leader: Tyler Johnson (Pediatrics and Rare Diseases Group, Sanford Research, USA)
1:30 pm - 2:30 pm
Panel Discussion
Different Paths on the Science Track
Seng Cheng (Pfizer, USA)
Sandra Hofmann (University of Texas Southwestern Medical Center, USA)
William Pavan (National Institutes of Health, USA)
2:30 pm - 3:00 pm
Evaluation Period
Fill in GRS Evaluation Forms
3:00 pm
Seminar Concludes
