New Study Advances CRISPR-Based Gene Therapy for Inherited Skin Disease

Researchers at the University of British Columbia in collaboration with the Berlin Institute of Health at Charité have developed a topical gene therapy capable of correcting disease-causing mutations directly in human skin, marking a significant advance in dermatological gene editing.

The study, led by Dr. Sarah Hedtrich, demonstrates that CRISPR-based gene editing can be delivered locally through the skin surface using a lipid nanoparticle (LNP) formulation. When applied topically, the treatment corrected underlying DNA mutations in laboratory-grown human skin models, restoring up to 30% of normal skin function.

The research initially focused on autosomal recessive congenital ichthyosis (ARCI), a rare inherited disorder affecting approximately 1 in 100,000 individuals. ARCI is characterized by severely dry, scaly skin, chronic inflammation, and increased infection risk, with no currently approved curative therapies.

To overcome the skin’s natural barrier, the team used a clinically approved laser to create microscopic, pain-free openings in the outer layer of skin. Lipid nanoparticles carrying CRISPR gene-editing components were then able to penetrate and reach underlying skin stem cells. Once inside, the CRISPR system corrected the faulty gene responsible for disease.

Importantly, the treatment remained localized within the skin, with no evidence of off-target effects reported in the study—an essential safety consideration for gene-editing therapies. Researchers suggest that even partial functional restoration may be sufficient to significantly improve patient outcomes.

Although the initial proof-of-concept focused on ARCI, the platform may be adaptable to other inherited skin disorders such as epidermolysis bullosa, as well as more common inflammatory conditions including eczema and psoriasis.

The work was conducted in partnership with NanoVation Therapeutics, a Vancouver-based biotechnology company specializing in lipid nanoparticle-based genetic medicines. The team has initiated discussions with regulatory authorities to define the pathway toward first-in-human clinical trials.

If successfully translated, this approach could represent a scalable, one-time topical gene therapy capable of delivering durable correction for rare genetic skin diseases.