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Prof Fergal O’Brien and his team in Royal College of Surgeons Ireland, Dublin, are developing a gene-activated scaffold in an attempt to heal the chronic wounds associated with EB. Gene-activated scaffolds offer a promising approach for delivering gene therapy directly to affected tissues, enhancing the effectiveness of treatment while minimizing potential side effects. They represent an innovative strategy for addressing genetic disorders, such as EB, and promoting tissue regeneration.
The gene-activated scaffold developed in RCSI will focus on the use of the gene COL7A1, which codes for Collagen 7, which is the gene missing or not working correctly in those who live with Dystrophic EB. The research team hope that this technology can eventually be applied to other EB types further down the line, such as Junctional EB and EB Simplex, by inserting the relevant malfunctioning genes associated with each type into the scaffold.
Due in 2024
Prof Fergal O’Brien is an expert in bioengineering and regenerative medicine, leading pioneering research at RCSI, Ireland’s forefront in advanced biomaterials. With a background in mechanical engineering and a PhD in bone mechanobiology, his work has been published in nearly 300 journals and he has over 50 completed doctoral supervisees. He also has 20 patents to his name and his accolades include three European Research Council Awards, a Fulbright Scholarship, and recognition from the Orthopaedic Research Society and Science Foundation Ireland.
Elected to the Royal Irish Academy and honored with the Marshall R Urist Award, his impact spans academia and beyond. Prof. O’Brien’s expertise shines on global platforms, from serving on the World Council of Biomechanics to chairing the World Congress of Biomechanics in 2018.
As a visionary bridging research and application, Prof. O’Brien’s breakthroughs are transforming bone and cartilage repair, driving forward the frontier of regenerative medicine. He hopes to apply these techniques in the hopes of finding an effective treatment for EB.
Epidermolysis Bullosa (EB) is a rare genetic skin condition affecting about 1 in every 30,000 babies worldwide and 1 in 18,000 children born in Ireland. In patients with EB, defective genes make the skin extremely fragile, causing it to tear or blister from even the slightest touch.
EB is also associated with many other health complications. In this project, we propose a unique approach combining gene therapy to fix the defective gene with tissue engineering to create special patch. This patch will help heal EB skin tears or wounds.
Our idea is to develop a gene-activated patch as a ready-to-use treatment for EB wounds, which will act as a protective dressing and potentially fight bacteria for external wounds and blisters.
Typically, gene therapy uses viruses to deliver genes to cells, which can raise safety and regulatory concerns. Instead, we will create a “gene-activated scaffold” or “patch” containing tiny particles with the corrected forms of the defective genes. These particles will safely and efficiently deliver the corrected genes to the target cells.
After obtaining promising preliminary data from this project using two- and three-dimensional cells, we will apply for funding for a larger grant to test these patches in living organisms. Our ultimate goal is for the gene-activated patch to be placed into an EB skin wound, where the patient’s own cells will move into the patch, pick up the tiny particles, and start using the corrected gene to improve healing.
Reducing wound severity, risk of infection, and speeding up wound healing are top priorities for patients with EB and their caregivers. Our research aims to not only reduce wounds but also provide antimicrobial properties to kill bacteria and prevent infections. Thus, our ready-to-use gene-activated scaffolds could promote successful wound healing in EB patients while minimising infection.
This improved wound healing and reduced infection risk may also help prevent other complications. As we progress from the pilot project to a larger follow-up study, Patient and Public Involvement (PPI) will become a major focus of our work. We will collaborate with patient advocates, caregivers, and clinicians to shape this research in meaningful ways.
This includes deciding which type of EB to test the gene-activated scaffolds on, designing the project evaluation, and determining the best ways to communicate the research process and outcomes to patients and health policy.
Due in 2024
Prof Fergal O’Brien
It is our role to increase EB research both in Ireland and across the globe.
We have funded and supported many research initiatives, contributing to a better quality of life for people living with EB.
We work closely alongside researchers, DEBRA International, clinicians and people linked in with us for all our research projects.
