FOR IMMEDIATE RELEASE
Breakthrough Gene Editing Study Signals New Momentum for Treating Zellweger Spectrum Disorder
Publication in Nature Biomedical Engineering highlights transformative preclinical results and features four GFPD Medical and Scientific Advisory Board (MSAB) members
April 22, 2026 — The Global Foundation for Peroxisomal Disorders (GFPD) highlights new research published in Nature Biomedical Engineering demonstrating that precision gene editing can significantly improve liver function in a mouse model of Zellweger spectrum disorder (ZSD).
ZSD is a group of inherited conditions that disrupt peroxisome function, metabolic organelles essential for normal cellular processes. Individuals with ZSD often experience severe, multisystem disease affecting the liver, brain, vision, hearing, and overall development. Current treatment options remain limited and largely supportive.
In this study, research teams co-led by Drs. David Liu (Harvard University) and GFPD MSAB member Cathleen Lutz (The Jackson Laboratory) were brought together by GFPD MSAB member Dr. Joseph Hacia (University of Southern California) to develop a targeted gene editing strategy for ZSD. The teams used an advanced platform known as base editing to correct the common PEX1-p.G843D pathogenic variant in patient-derived fibroblasts and in the liver of a corresponding mouse model.
A single administration improved liver function and mouse growth, and reduced key disease biomarkers in vivo, providing compelling proof of concept for mutation-directed therapies in peroxisomal disorders.
Importantly, this work builds on emerging clinical validation of base editing as a therapeutic platform. Recent first-in-human application in an individualized (“N=1”) setting, notably the treatment of “Baby KJ,” in which a bespoke liver base editing therapy corrected a pathogenic variant, demonstrated the feasibility of rapidly translating precision editing into clinical interventions. Together, these advances underscore a shift from gene editing as an experimental tool to a programmable therapeutic platform capable of targeting patient-specific variants.
This research adds to the growing momentum behind gene editing approaches that address disease at its source. By directly correcting pathogenic variants, base editing technologies offer the potential for precise, durable, and potentially one-time treatments.
While additional studies are needed to evaluate safety, durability, and delivery in ZSD, these findings represent a critical translational bridge between preclinical efficacy and clinical application.
The study’s co-first authors are Xin “Daniel” Gao (Broad Institute; now University of Pittsburgh) and Maximiliano Presa (The Jackson Laboratory). Additional co-authors include GFPD MSAB members Nancy Braverman (McGill University) and Ann Moser (Kennedy Krieger Institute), as well as Guangping Gao (University of Massachusetts Chan Medical School).
“The publication of this study underscores the accelerating pace of innovation in rare disease research,” said Ryan Maple, Executive Director of GFPD. “For families facing peroxisomal disorders like ZSD, the need for effective treatments is urgent. Advances like this not only move the science forward, they validate a new therapeutic paradigm with the potential to reach even the rarest patient populations.”
“We are especially proud to see four GFPD advisory board members contributing to this important advance,” Maple added. “Their leadership reflects the collaborative science needed to bring next-generation therapies closer to patients.”