Cure RTD Foundation

Cure RTD Foundation is proud to have funded the five following research projects in advancement of the understanding and treatment of RTD:(a) $107,000 to Fondazione Bambino Gesu Ente Filantropico, a children's research hospital in Rome, Italy. The research project is titled "Unveiling the Underpinning of Mitochondrial Bioenergetics in RTD Motoneurons and Evaluation of Nerve Growth Factor Treatment as Therapeutic Treatment.(b) $52,000 to Children's Medical Research Institute in Australia. This is our second payment on a 2-year grant to begin understanding the eye defects of RTD patients by developing iPSC-derived Retinal Organoids: a 3D model to test the efficacy of the AAV Gene Therapy.(c) $50,000 to University of California, Irvine for a research project titled: "Post-translational modification (PTM) of hRFVT2 in human neuronal cells." The overall goal is to understand the molecular mechanisms regulating RF body homeostasis to design effective therapies for conditions like RTD. The working hypothesis is that hRFVT2 PTMs may be dysregulated in RTD pathologies, and the specific aim is to investigate the role and consequences of hRFVT2 post-translational modifications in the human fibroblast/neuronal system. The expected results will provide information on the neuronal RF transport process under normal conditions and how it is dysregulated in RTD, ultimately assisting in designing effective therapeutic strategies.(d) $14,350 to The Jackson Laboratory to fund a study titled "Pilot Biomarker Evaluation for Riboflavin Transport Deficiency (RTD)" with a purpose to validate histopathological and metabolomic/lipidomic as markers for RTD in B6.(e) $9,450 to UT Southwestern Medical Center for research on a SCL52A2 gene therapy project.