Dr. Sarah Hedtrich, Associate Professor in the School of Biomedical Engineering (SBME) at the University of British Columbia, has been sub-awarded US$5.5 million as part of a US$26 million international research initiative funded by the ARPA-H Treating Hereditary Rare Diseases with In Vivo Precision Genetic Medicine (THRIVE) program to develop a first-of-its-kind precision genetic medicine for devastating rare skin diseases.
The project, “Curing Rare Skin Diseases with NueSKIN,” brings together leading experts to develop a topical gene-editing therapy for Epidermolysis Bullosa —a group of rare inherited skin disorders that cause the skin to blister and tear from even minor friction or trauma. Patients often experience chronic, painful, non-healing wounds, severe infections and significantly reduced quality of life, with some forms of the disease associated with increased mortality. The award is part of ARPA-H’s THRIVE initiative to advance personalized, curative medicines for rare genetic diseases.
The team’s approach, called NueSKIN (Nucleic acid Skin), is designed to deliver precision gene-editing medicines directly to skin wounds. The technology combines lipid nanoparticles with a base-editing system that can correct disease-causing genetic mutations at their source. The therapy will be applied as a topical spray directly to open wounds, offering the potential for a safe, localized treatment with minimal systemic exposure.
“Patients with Epidermolysis Bullosa (EB) live with chronic, painful wounds that have no curative treatment,” said Dr. Hedtrich. “Our goal is to harness the power of precision gene editing to develop a topical therapy that corrects the underlying genetic cause of disease directly in the skin. If successful, this approach could not only transform care for patients with EB but also establish a platform for treating many other inherited skin disorders.”
The project will focus on recessive dystrophic Epidermolysis Bullosa (RDEB), one of the most severe forms of EB. By correcting disease-causing mutations directly in patients’ skin, the researchers aim to promote durable wound healing and dramatically improve quality of life.
Dr. Hedtrich will work together with the internationally recognized experts Jean Tang, MD, PhD, and Tony Oro, MD, PhD, both professors of dermatology at Stanford Medicine, and Dr. Fyodor Urnov of the Innovative Genomics Institute at UC Berkeley.
The multidisciplinary team brings together expertise in rare genetic skin diseases, gene editing, nanomedicine, and dermatology to accelerate the development of a platform technology that could ultimately be adapted to treat many of the more than 1,000 inherited genetic skin disorders.
If successful, NueSKIN could establish a new paradigm for topical precision genetic medicines, transforming the treatment of rare skin diseases while creating a platform for broader applications across dermatology and genetic medicine.