- In March 2023, Pfizer announced a preclinical study for a novel gene therapy candidate targeting ECM1 gene mutations associated with Lipoid Proteinosis.
- In July 2022, Roche partnered with a genomics institute to develop personalized diagnostics for early detection of rare skin and mucosal disorders.
- In 2024, South Korea’s health authority approved a new dermatologic formulation intended to reduce mucosal thickening in Lipoid Proteinosis patients.
- The report also highlights emerging trends such as CRISPR-based gene editing, AI in histopathologic image recognition, and integration of dermatological and neurological symptom management in rare disease therapy.
