Day of Hope Conference Presenter Abstracts

Click Presentation Title to Download Abstract (PDF)

Cystinosis: The Building Blocks
Stephen Jenkins, MD, CRF Trustee
University of Utah Hospital

Cystinosis, The Early Years: Fanconi Syndrome and More
Larry Greenbaum, MD, PhD
Emory University School of Medicine and Children’s Healthcare

The Changing Face of Cystinosis from Childhood to Adulthood
Julian Midgley, BM, BCh
Alberta Children’s Hospital

Advances in Kidney Care and Transplantation
Paul Grimm, MD
Stanford University/Lucile Packard Children’s Hospital

Regenerating Kidney Tissue to Combat Nephropathic Cystinosis
Benjamin Freedman, PhD
University of Washington

Current Ocular Therapy for Cystinosis
Donny Suh, MD, FAAP, MBA, FACS
Gavin Herbert Eye Institute at University of California, Irvine

Development of a Controlled Release Cysteamine Eye Drop for Corneal Cystinosis
Morgan DiLeo, PhD
University of Pittsburgh, School of Medicine

CCIR: Be Part of the Cure
Clay Emerson, PhD, PE, CRF Trustee

Translational Approaches for Cystinosis, New Targets, Same Hope
Sergio Catz, PhD
The Scripps Research Institute

Preclinical Studies on New Treatments for Cystinosis in Cystinotic Rats
Jennifer Hollywood, PhD
University of Auckland, New Zealand

Why Patient Voices Matter: Cystinosis & Revolutionizing Gene Therapies for Rare Diseases and Beyond
Betty Cabrera, MPH
University of California, San Diego

Phase 1/2 Clinical Trial of Autologous Hematopoietic Stem and Progenitor Cell Gene Therapy for Cystinosis
Stéphanie Cherqui, PhD
University of California, San Diego

Illuminating Novel Molecular Mechanisms of Lysosomes in Cystinosis to Uncover Therapeutic Targets
Lauren Albrecht, PhD
University of California, Irvine

Intracellular Cystine Measurement. What is Normal?
Bruce Barshop, MD, PhD
University of California, San Diego

An mRNA/Lipid-Nanoparticle Strategy to Treat Cystinosis
Paul Goodyer, MD
McGill University Health Center in Montreal, Canada