GFPD/STAIR Collaboration Invites Patient Input in Research

Among medical professionals, rare diseases like Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) are challenging to recognize in patients and even more challenging to treat. Currently, there is no specific treatment for PBD-ZSD and most therapeutic options focus on management of individual symptoms. Even the treatment of individual symptoms is difficult to address by medical professionals when there are no established precedents to treat those symptoms as a part of the disease. These challenges are primarily due to a lack of scientific research on PBD-ZSD and rare diseases overall. To address these barriers to treatment, the Rare Disease Act of 2002 established the Rare D

Retinal Gene Therapy Trial Underway at McGill University

Our dedicated researchers worked hard over the holidays, making great progress on the PBD-ZSD retinal gene therapy project at McGill University. The PEX1 mice have received retinal injections of the normal PEX1 gene. The mice are doing well and soon we will be able to determine if this treatment has an effect on their vision. This project is taking place in Dr. Braverman’s laboratory in collaboration with Dr. Jean Bennet (University of Pennsylvania), who is an international pioneer in retinal gene therapy. Dr. Bennet has designed the gene therapy tools, and the research team has delivered the normal PEX1 gene to the retina of our PEX1-G843D mouse. Cheers to the amazing skills of Dr. Braverma

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