- In May 2024, Invitae Corporation, a leader in genetic testing, expanded its rare disease diagnostics portfolio by launching an enhanced next-generation sequencing panel specifically targeting peroxisomal biogenesis disorders, including Zellweger spectrum disorders. This development reflects the growing demand for early and accurate diagnosis in rare genetic conditions and Invitae’s commitment to increasing accessibility and precision in genomic medicine, ultimately supporting improved patient care pathways for affected families
- In March 2024, the National Institutes of Health (NIH) announced new funding under the Rare Diseases Clinical Research Network (RDCRN) to support a multi-institutional study on peroxisomal disorders, including Zellweger spectrum disorders. The initiative aims to improve understanding of disease progression, optimize clinical care standards, and facilitate patient recruitment for future therapeutic trials. This move emphasizes the growing prioritization of rare disease research in public health agendas
- In February 2024, Peroxisome Disease Alliance, a global patient advocacy group, launched an international awareness campaign focusing on Zellweger spectrum disorders. The campaign aims to improve early diagnosis through education initiatives targeting pediatricians and primary care physicians, while also advocating for broader newborn screening. The initiative highlights the increasing role of patient organizations in driving clinical and policy engagement around rare genetic conditions
- In January 2024, GeneDx, a clinical genomics company, introduced a collaboration with major pediatric hospitals across Europe to pilot AI-driven variant interpretation tools tailored for complex rare diseases such as Zellweger spectrum disorders. This initiative seeks to accelerate diagnosis timelines and improve the accuracy of genetic result interpretation, showcasing innovation in integrating AI with rare disease diagnostics
- In December 2023, Orphazyme A/S, a rare disease biotech firm, announced early-stage preclinical results for a novel compound targeting peroxisomal dysfunction related to Zellweger spectrum disorders. While still in development, the findings mark a step toward addressing the critical need for disease-modifying treatments and reflect the rising pharmaceutical interest in targeting the molecular basis of peroxisomal disorders
