Day 1 - November 24th, 2024
9:00 Opening Remarks - Ozlem Goker-Alpan, MD | LDRTC, Virginia, USA
Keynote Presentation: David G. Warnock, MD | Professor of Medicine (Emeritus), University of Alabama at Birmingham, AL, USA
Optimizing the efficacy and safety of therapy for Fabry disease.
Overview of Epigenetics and Epigenomics in LDs
Moderators: David Warnock, MD | Gregory Grabowski, MD
10:00 Epigenetic mechanisms: DNA methylation, histone modification, and non-coding RNAs. | Nahid Tayebi, PhD, Staff Scientist, National Human Genome Research Institute, Maryland, USA.
10:20 Epigenetic dysregulation of oligodendrocyte maturation and myelination in NPC. | Andrew Lieberman, MD, PhD, Abrams Collegiate Professor of Pathology, Director of Neuropathology University of Michigan Medical School, Michigan, USA.
10:40 Identifying genetic modifiers for therapeutic intervention in lysosomal storage disorders. | Andrés D. Klein, PhD, Associate Professor and Director of the Doctorate Program in Sciences and Innovation in Medicine at Universidad del Desarrollo, Santiago, Chile.
11:00 Engaging Gen Z in the Era of AI and genomics AI applications in the diagnosis of Fabry disease. | Young Investigator Award: David Smerkous , AI PhD Student, Oregon State University, Oregon, USA.
11:20 - 11:50 Q & A
12:00 - 13:30 LUNCH
Epigenetic and Epigenomics signature in LDs pathology
Moderators: Mia Horowitz, PhD | Shoshana Revel-Vilk, MD
13:30 Adenosine kinase, as a regulator of DNA methylome and the interplay between lysosomal and adenosine pathways. | Detlev Boison, PhD, Vice Chair of Research and Training, Professor, RWJMS & NJMS Neurosurgery Department Rutgers, The State University of New Jersey, USA.
13:50 Epigenetic silence mechanism: skewed X-inactivation in Fabry disease. | Dominique P. Germain, MD, PhD, Professor of Paris Saclay University / University of Versailles - St Quentin en Yvelines (UVSQ) Division of Medical Genetics UFR des Sciences de la Santé Simone Veil, France.
14:10 Epigenetic inactivation of the autophagy–lysosomal system in Parkinson disease. | Juozas Gordevicius, PhD, CTO of VUGENE Vilnius, Lithuania.
14:30 From ER stress in Gaucher disease to GBA1-associated Parkinson disease and its modification by mutant LRRK2. | Mia Horowitz, PhD, Professor, Shmunis School of Biomedicine and Cancer Research, Tel Aviv University, Israel.
14:50 - 15:20 Q & A
15:20 - 15:45 BREAK
Epigenetic Modifiers as Therapeutic Targets
Moderators: Ryan Colburn | Caroline Hasting, MD.
15:45 Urinary-derived extracellular vesicles reveal a distinct microRNA signature associated with the development and progression of Fabry nephropathy. | Professor Katarina Trebušak Podkrajšek, PhD, Faculty of Medicine, Institute of Biochemistry and Molecular Genetics, University of Ljubljana, Slovenia. **VIRTUAL
16:05 Characterization and manipulation of cellular systems using microfluidics. | Ali Beskok, PhD, Associate Dean for Research Innovation and PhD Education George R. Brown Chair in Mechanical Engineering, Southern Methodist University, Texas, USA.
16:25 Development and delivery of enzyme replacement therapy in neuronopathic Gaucher disease. | Ying Sun, Professor, Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Ohio, USA.
16:45 The misfolded Glucocerebrosidase – bridging molecular advancements, clinical insights and therapeutic innovations. | Young Investigator Award: Majdolen Istaiti (Joleen), B.Sc., MBA, Clinical Study Coordinator at Gaucher Unit, Pediatric Hematology-Oncology Unit, Shaare Zedek Medical Center, Israel.
17:05 - 17:35 Q & A
17:35 - 17:45 Day 1 closing remarks | Ozlem Goker-Alpan, MD
19:00 - 21:00 DINNER
Day 2 - November 25th, 2024
Understanding the global differences in LDs for patient care
Moderators: Ozlem Goker-Alpan, MD | Yair Anikster, MD
09:00 The role of C-Path lysosomal disease consortium for harmonization of goals for rare disease diagnosis and treatment innovation. | Krista Casazza, PhD, RD, CSSD, Scientific Director, Pediatrics, CPLD, Arizona, USA.
09:20 Global overview of lysosomal disorders: epigenomics and geographic variations. | Uma Ramaswami, FRCPCH, MD, Consultant in Inherited Metabolic Disorders, Honorary Associate Professor Genetics and Genomic Medicine, UCL. Clinical Lead, Lysosomal Storage Disorders Unit Institute of Infection, Immunity and Rare Diseases Royal Free London NHS Foundation Trust, UK.
09:40 Phenotypic spectrum of Gaucher disease in populations from South America. | Ida Vanessa D. Schwartz, MD, PhD, Professor, Genetics Department, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Porto Allegre, Brazil.
10:00 Global changes in MPS epidemiology and related biology as revealed by transcriptomic studies. | Leyla Namazova-Baranova, MD, PhD, Head of Pediatric Department, Research Institute of Pediatrics and Children’s Health Protection, Pirogov Russian National Research Medical University, Moscow, Russia.
10:20 A comparison between consanguineous and nonconsanguineous communities for IEM: Lessons from the Negev. | Orna Staretz-Chacham, MD, Senior Neonatologist Metabolic Clinic, Rare Disease Center, Director of Soroka Medical Centre, Israel.
10:40 - 11:20 Q & A
11:20 - 11:30 Program closing remarks | Ozlem Goker-Alpan, MD
11:30 - 12:00 Lunch
13:00 - 17:00 Fabry Disease Clinic - By invitation only at LDRTC