EBRP Funded Research | EB Research Partnership

Since 2017, EB Research Partnership has invested in the boldest ideas in Epidermolysis Bullosa research, from gene and stem cell therapies to treatments for pain, itch, and cancer.

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Research
SpotlightS

Twice a year, EBRP's independent Scientific Advisory Board evaluates applications from researchers around the world, selecting the most promising projects across the full range of EB, from gene therapy and disease modeling to pain management and quality of life.

A closer look at projects from our most recent funding round, the researchers, their institutions, and what your support makes possible.

See round one of approved 2026 research cycle projects below.

Peter Marinkovich, MD

Principal Investigator

Stanford University

EBRP Funding $330,584

A Gene Therapy for One of EB’s Most Severe Forms

Overcoming lethality of junctional EB through stem cell-based gene therapy

Peter Marinkovich, M.D., is an Associate Professor of Dermatology, a faculty member of the Program in Epithelial Biology and the Stanford Cancer Biology Program. He has an interest in inflammatory skin disease and is Director of the Stanford Bullous Disease and Psoriasis Clinics as well as an attending dermatologist at the VA Palo Alto Medical Center. Dr. Marinkovich’s research focuses on pathogenesis and therapy of epidermolysis bullosa, autoimmune blistering diseases, psoriasis and skin cancer.

The team has already created a JEB mouse that lacks laminin-332, giving them a reliable model to test treatments. They then took stem cells from the lining of the mouth and airway, used a modified virus to deliver a corrected copy of the faulty gene into those cells outside the body, and transplanted the repaired cells back into the mice in the affected areas. They are now tracking whether this actually fixes the disease, measuring survival, weight, and breathing function in treated versus untreated animals. If successful, the researchers plan to apply to the FDA IND for special authorization to bring this therapy to patients in an early phase trial, potentially offering a life-saving treatment for one of the most severe forms of EB.

Anthony Oro, MD, PhD

Principal Investigator

Stanford University

EBRP Funding $495,010

Spray-On Skin: A CRISPR Gene Therapy for RDEB

Renewal of CRISPR SWAP-mediated induced Skin Composite Delivery Through Electrospray-on-Skin Technology

Anthony E. Oro, M.D., Ph.D., is the Eugene and Gloria Bauer Professor of Dermatology, Associate Director of the Center for Definitive and Curative Medicine, and the co-director of the Child Health Research Institute. He is co-founder of the Program in Epithelial Biology, and an active member of the Institute for Stem Cell Biology and Regenerative Medicine, Children’s Health Research Institute, Bio-X, and the Program in Cancer Biology. His research interests encompass cancer genomics and tumor evolution, stem cell biology and hair/skin development and regeneration, and definitive molecular and cellular therapeutics. His clinical interests include hair biology, non-melanoma skin cancer, and stem cell-based therapies for genetic skin diseases.

The team has developed a treatment called CRISPR-SWAP DEBCT, which takes a patient’s own cells, uses CRISPR gene-editing technology to correct the faulty gene, and converts them into a spray-on skin therapy that can be applied directly to wounds. In early animal studies, this approach has already shown the ability to heal wounds in mice. The therapy is designed to be scalable, meaning it could realistically be manufactured and made available to many patients, not just a few. The researchers are now seeking funding to complete the studies required to apply for FDA authorization to begin a Phase I human trial, which would be the first real-world test of whether this spray-on gene-corrected skin therapy can definitively heal wounds in RDEB patients.

Amy Paller, MD

Principal Investigator

Northwestern University

EBRP Funding $456,995

Relieving Chronic Pain and Itch in Dystrophic EB

Treating Pain and Itch in Dystrophic Epidermolysis Bullosa

Dr. Amy Paller is a distinguished researcher and clinician specializing in pediatric dermatology. She serves as the Walter J. Hamlin Professor of Dermatology and Pediatrics and Chair of the Department of Dermatology at Northwestern University Feinberg School of Medicine. Additionally, she directs the NIH-funded Skin Biology and Diseases Resource-Based Center and practices at Lurie Children’s Hospital of Chicago, focusing on genetic and inflammatory skin disorders in children. Her research has touched many areas of biology, including related to epidermolysis bullosa. Her laboratory is seeking new ways to manage pain and itch in EB, with both clinical studies and investigations in mouse models of EB. She has recently developed an app that provides probability of skin cancer in dystrophic EB using artificial intelligence and is working collaboratively to find new ways to use gene therapy to cure EB. Her laboratory also focuses on understanding the lipid and protein biology of the skin barrier. Dr. Paller has led more than 130 clinical trials related to pediatric genetic and inflammatory skin disorders, contributing significantly to advancing new treatments, understanding skin diseases, and capturing the outcomes reported by patients and parents that critically impact quality of life.

This team has showed that boosting the body’s own natural pain-regulating system (the endocannabinoid system) reduces pain in RDEB mice, and are now identifying the most effective and safest way to do that, including whether pain relief can be achieved without affecting the brain, a critical consideration for children and lifelong treatment. Alongside animal studies, they are analyzing skin biopsies from RDEB patients to map exactly which cells and signals drive pain and itch in chronically wounded skin, and studying blood samples to identify markers that could predict treatment response. Because some compounds being tested are already in clinical development for other pain conditions, a positive result could lead directly to repurposing an existing drug for EB.

Armen Karamanian, MD, PhD

Co-Founder & CEO

Eliksa Therapeutics

EBRP Funding $450,000

Eye Drops to Treat EB’s Most Painful Eye Complications

Project Renewal. Year 3: Advancing ELK-003 Eye Drops for the Treatment of Ocular Manifestations Across all Epidermolysis Bullosa Subtypes.

With doctorates in both medicine and pharmacology, Armen Karamanian is an accomplished physician and scientist focused on creating innovative products, companies and business models across biotech, life sciences and healthcare. He is currently the Co-Founder and CEO of Eliksa Therapeutics, a pioneering biotechnology company dedicated to addressing rare diseases. Armen and his team specialize in developing innovative treatments for unmet medical needs and conditions, including Epidermolysis Bullosa.

Eliksa Therapeutics has made substantial progress, including enrolling 20 patients in a clinical trial in Chile and early results showing meaningful reductions in pain and improved corneal healing. The FDA has granted ELK-003 Orphan Drug Designation, the Department of Defense has awarded $4.28 million for manufacturing development, and a strategic investor group has committed additional funding. In 2026, the team will complete the trial, analyze results to identify the strongest efficacy endpoints, and meet formally with the FDA to map the path to US approval for all EB subtypes. EBRP’s continued investment would ensure this program crosses the finish line, converting years of research into a tangible option for one of EB’s most painful complications.

Amy Paller, MD

Principal Investigator

Northwestern University

EBRP Funding $231,856

Testing an Existing Drug to Treat EB Simplex

Repurposing the PDE4 Inhibitor Roflumilast to Treat Blistering and Pain in Localized Epidermolysis Bullosa Simplex: A Natural History Study for Clinical Trials Readiness and Self-controlled Intervention Trial

This two-year study tests whether a drug called roflumilast, which is already approved for other inflammatory conditions, can reduce blistering and pain in localized EBS. In year one, participants will be closely monitored through the summer months (when symptoms are worst) to establish a detailed baseline of their disease activity. In year two, the same patients will take roflumilast during the same summer period, allowing for a direct before-and-after comparison. Researchers will track blistering, pain, mobility, and quality of life throughout. Because roflumilast already exists and is approved for other uses, this approach offers a faster, lower-cost path to a real treatment option for a patient population that currently has no approved treatments.

Karl Koehler, PhD

Principal Investigator

Children’s Hospital Corporation

EBRP Funding $435,773

Building a Faster Lab Model for Testing EB Therapies

MEND: Modeling EB with Next-generation Disease Organoids

With a doctorate in medical neuroscience and postdoctoral fellowship training from the Indiana University School of Medicine, Dr. Karl Koehler’s research focuses on using the organoid culture system as a platform to develop regenerative therapies for the inner ear and various craniofacial tissues. The overall aim of this work is to create new tools to study human sensory organ development, function, and regeneration. Research in the Koehler Lab focuses on understanding the development and regeneration of sensory organs. The lab’s primary goal is to elucidate how cells from various layers of the developing embryo converge to form a functioning sense organ. Dr. Koehler believes such basic developmental knowledge can provide mechanistic insights needed to design drug, gene, or cell therapies to restore sensory function in patients. The lab has two major projects focused on the inner ear and skin. As the foundation of these projects, they have pioneered several first-of-its-kind cell culture models of the human inner ear and skin using stem cells.

In year one, this team built and validated a human skin organoid (a miniature, lab-grown model of RDEB skin) that accurately reproduces the key features of the disease at a structural and molecular level. In year two, they will now use this platform to test multiple gene therapy delivery methods to see which most effectively restores the missing protein and repairs the damaged skin structure. They will also model the inflammatory environment present in EB wounds, and expand the platform to replicate JEB as well. Because this platform can be used to test a wide range of emerging therapies across multiple EB subtypes, it essentially creates a shared preclinical testing pipeline that other researchers developing gene therapies for EB can plug directly into, accelerating the path from laboratory discovery to human trials.

Maria Teresa Garcia Romero, MD

Principal Investigator

Instituto Nacional de Pediatría

EBRP Funding $53,652

How EB Affects the Immune System in Children

Exploratory comparative cross-sectional analysis of markers of immunosenescence and cellular exhaustion in CD4+ and CD8+ lymphocytes in peripheral blood and skin biopsies of pediatric patients with Epidermolysis Bullosa.

Dr. Garcia Romero is a dermatologist trained in Mexico, where there are great contrasts in public vs private health care settings. After a 2-year fellowship in pediatric dermatology at The Hospital for Sick Children in Toronto, she received a Masters in Public Health at Harvard School of Public Health, focusing on quantitative methods for clinical research and the use of technology for health care delivery. Currently, Dr. Garcia Romero is an Attending Dermatologist and Researcher at the Instituto Nacional de Pediatría. Her interests are varied, ranging from clinical research and being able to quantify outcomes in all settings, to global health and improving people’s health even if she can’t directly care for them. One of the areas Dr. Garcia Romero has worked in the past and is now deeply involved in is teledermatology and other uses of technology and innovation as means to deliver specialty care in resource poor settings and remote areas, and also as tools to provide continuing medical education to health care workers and providers - eHealth and mHealth. She is also interested in expanding our knowledge on rare diseases such as localized scleroderma, inmunologic dermatologic conditions and tropical diseases. One of her more recent areas of interest is the microbiome and how it affects one’s health and its association with immunologic and reactive conditions.

This study, based in Mexico City, will analyze blood and skin samples from children and young adults with EB alongside healthy peers of the same age and sex, looking for biological markers that indicate cellular senescence, aging, and exhaustion. By comparing EB patients to healthy controls and examining how these markers correlate with disease severity, the researchers hope to determine whether senescence is a meaningful driver of how EB progresses. If it is, the findings could open the door to repurposing drugs that already exist, known as senolytics and senomorphics, to slow or reduce EB’s progression and complications, offering a potentially faster route to new treatment options for patients.

2026 Research cycle • round one

Our Biggest Cycle Yet

After rigorous review by our independent Scientific Advisory Board, we approved seven innovative projects across five institutions, totaling $2.45M in new funding.

Applications received

Projects approved

Institutions funded

$2.45M

Total awarded

Curious about the broader picture? View Our Impact ›

Breakdown of EB Subtypes

Breakdown of Research Techniques

* Represents the 7 approved cycle projects

Explore all funded projects by year

2025

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