Schedule

Welcome and Symposium Introduction

R. Claudio Aguilar and Robert Nussbaum

Alpelisib and alterations in the actin cytoskeleton

Jennifer Gallop (University of Cambridge, UK).

Control of cell fate specification and physiological maturation in the human brain by the lipid phosphatase OCRL

Raghu Padinjat *presenting remotely* (National Centre for Biological Sciences, Bangalore, India).

Networking Break

Keynote Address: A pipeline for drug repositioning in Lowe Syndrome

Antonella DeMatteis (University of Naples “Federico II”, Italy).

Lunch Break

Panel Discussion: Translating Research into Clinical Practice

Networking Break

Workshop on Structural, Cell, Biological, and Genomic Approaches to Lowe Syndrome

Organized by: Shreya Ugale and Phillip Rushton

Featuring:
Peristera Paschou (Purdue University, IN, USA) - Genomic approaches to understand complex neurodevelopmental disorders

Lauren Ann Metskas (Purdue University, IN, USA) - Correlated Light and Electron Microscopy Approaches for Imaging and In Situ Structural Biology

Christina Ferreira (Purdue University, IN, USA) - Mass Spectrometry-Based Lipidomic Approaches for Unraveling Disease Mechanisms

Networking Reception

OCRL role in Lipid Droplet Dynamics and Mitochondrial Activity: Implications for the Progression to Chronic Kidney Disease in Lowe Syndrome

Leopoldo Staiano (Telethon Institute of Genetics and Medicine, Naples, Italy)

Lowe Syndrome: Molecular Basis for Personalized Treatment Approaches

R. Claudio Aguilar (Purdue University, IN, USA)

Emerging Lowe Syndrome Scientist Talk 

Isabelle Toader - Brain and Behavioral Sciences (Purdue University, IN, USA)

Caregiver Well-being in Rare Disorder Communities and Remote Outcome Measure Assessment 

Bridgette Kelleher (Purdue University, IN, USA)

Roundtable Discussion: Patient Families and Clinicians

Discussion moderated by Jeri Kubicki (President of LSA) and featuring Lowe Syndrome patient families and clinicians

 Working Lunch 

Translational Strategies for Advancing Lowe Syndrome Research: A Collaborative Grant Development Session

Organized by Thomas Sors and R. Claudio Aguilar (Purdue University, IN, USA)

Closing Remarks

R. Claudio Aguilar and Robert Nussbaum