July 2026 Town Hall: Life with EB Simplex & Progress in the space
This month, EBRP welcomed the community to a Town Hall focused on life with EB Simplex, and the urgent, innovative science working to find treatments and a cure. We were joined by the DiPalma family, Thomas, Marie, and Jared, who openly shared what it is like to raise a child with EB Simplex, live with EB Simplex as a 12 year old child, and find your voice as an advocate. We also heard from Dr. Jose Ayuso, whose lab at the University of Wisconsin is pioneering some of the most exciting early-stage work in the EB Simplex space.
The DiPalma Family: Navigating EB Simplex and Finding your voice
Thomas DiPalma is a 12-year-old from Scarsdale, New York, who will be 13 in just two weeks. He plays baseball and soccer, recently completed two weeks at sleepaway camp, and has presented a full research project on EB to his fifth-grade classmates. He also rang the opening bell at the New York Stock Exchange alongside EBRP, bringing national visibility to the fight against EB.
Thomas was diagnosed with EB Simplex at just under one year old, when blistering on his feet appeared when learning to walk. His parents, Marie and Jared, saw two dermatologists before anyone said the words "Epidermolysis Bullosa." When a diagnosis was finally confirmed through genetic testing, they were left with more questions than answers, and a referral to someone who might know more.
Marie described what came next as a journey with many phases. The family found EBRP within six months of diagnosis. "EBRP has been a partner with us since the very beginning," Marie said, "first as resources and giving me the chance to talk to parents whose children also had EB. The first time I'd ever spoken to anyone familiar with this outside of doctors who were still learning."
Marie and Jared emphasized allowing Thomas lead his own care and needs. He decides when to push through the pain and when to stop. He wears sneakers instead of cleats at sports practice when he needs to, and he proactively sends photos of his blisters to his mom from camp to get a second opinion. "His threshold for pain and discomfort is pretty high," Marie said. "So if he says it's too much, we know it's too much."
For his fifth grade capstone project, Thomas decided to focus on EB. "I really didn't know much about EB," Thomas said. "So I decided that's what I was going to do my project on. And I got to understand what each different type of EB meant, and how I was pretty lucky that I only got Simplex. I also wanted other people to learn about it so it wasn't a really awkward interaction whenever someone asked me why I was sitting out." Since then, his friends have become more thoughtful and aware, and that support, he said, makes the harder days more comfortable.
For Jared, the biggest change over the past twelve years has been hope. "When Thomas was first diagnosed, there was really nothing. We just felt this was something we'd have to deal with for the rest of his life. Now there is so much coming out. It's just a matter of when."
When asked about the biggest remaining gaps for the Simplex community, both Marie and Jared pointed to information sharing. Because EB Simplex varies so widely from person to person, practical knowledge, about shoes, clothing, bandages, daily management, is still largely passed person to person. A dedicated repository for that kind of community-sourced information, specific to Simplex, remains a meaningful unmet need.
Thomas's advice for other kids who might want to share their story but feel nervous: "Know that sharing your story, even if it might be a little nerve-wracking, is always the best choice. It brings more awareness to EB and to the people around you."
Thomas was diagnosed with EB Simplex at just under one year old, when blistering on his feet appeared when learning to walk. His parents, Marie and Jared, saw two dermatologists before anyone said the words "Epidermolysis Bullosa." When a diagnosis was finally confirmed through genetic testing, they were left with more questions than answers, and a referral to someone who might know more.
Marie described what came next as a journey with many phases. The family found EBRP within six months of diagnosis. "EBRP has been a partner with us since the very beginning," Marie said, "first as resources and giving me the chance to talk to parents whose children also had EB. The first time I'd ever spoken to anyone familiar with this outside of doctors who were still learning."
Marie and Jared emphasized allowing Thomas lead his own care and needs. He decides when to push through the pain and when to stop. He wears sneakers instead of cleats at sports practice when he needs to, and he proactively sends photos of his blisters to his mom from camp to get a second opinion. "His threshold for pain and discomfort is pretty high," Marie said. "So if he says it's too much, we know it's too much."
For his fifth grade capstone project, Thomas decided to focus on EB. "I really didn't know much about EB," Thomas said. "So I decided that's what I was going to do my project on. And I got to understand what each different type of EB meant, and how I was pretty lucky that I only got Simplex. I also wanted other people to learn about it so it wasn't a really awkward interaction whenever someone asked me why I was sitting out." Since then, his friends have become more thoughtful and aware, and that support, he said, makes the harder days more comfortable.
For Jared, the biggest change over the past twelve years has been hope. "When Thomas was first diagnosed, there was really nothing. We just felt this was something we'd have to deal with for the rest of his life. Now there is so much coming out. It's just a matter of when."
When asked about the biggest remaining gaps for the Simplex community, both Marie and Jared pointed to information sharing. Because EB Simplex varies so widely from person to person, practical knowledge, about shoes, clothing, bandages, daily management, is still largely passed person to person. A dedicated repository for that kind of community-sourced information, specific to Simplex, remains a meaningful unmet need.
Thomas's advice for other kids who might want to share their story but feel nervous: "Know that sharing your story, even if it might be a little nerve-wracking, is always the best choice. It brings more awareness to EB and to the people around you."
Dr. Jose Ayuso: Engineering, Biology, and Medicine in the Fight Against EB Simplex
Dr. Jose Ayuso is an assistant professor at the Dermatology Research Laboratories at the University of Wisconsin and an affiliated member of the Department of Biomedical Engineering. His lab studies human disease using advanced in vitro platforms that replicate the architecture and behavior of living tissue. His EBRP-funded work focuses specifically on EB Simplex (EBS).
Dr. Ayuso opened with an important distinction: the treatments recently approved for dystrophic EB work because that subtype is driven largely by a deficiency in Collagen 7. Providing more Collagen 7 corrects the problem. EB Simplex is fundamentally different. Patients with EBS have plenty of Collagen 7. Their disease is driven by dominant negative mutations in keratin proteins, most often Keratin 5 or Keratin 14, which cause the structural filaments that hold skin cells together to collapse under mechanical stress. That means treatments designed for dystrophic EB won't work for EBS, and the research pipeline needs to reflect that.
Compounding the challenge: there are likely hundreds of distinct genetic alterations that can cause EBS, each potentially requiring a different therapeutic approach. Drug development is already expensive and slow. A highly personalized disease makes it even harder. That's where Dr. Ayuso's microphysiological systems come in.
Skin on a Chip
Microphysiological systems, or "organ on a chip" devices, are small platforms that allow researchers to grow patient-derived cells in a three-dimensional environment that mimics real tissue. Dr. Ayuso's lab uses these to build patient-specific skin constructs, essentially an avatar of a patient's skin that can be tested with multiple therapeutics quickly and affordably, without waiting months to generate a mouse model.
To measure mechanical integrity of the "skin on a chip", the lab uses a technique borrowed from engineering: applying controlled airflow or fluid pressure to skin cells on the chip and measuring how well they hold on. Healthy keratinocytes barely move. EBS keratinocytes detach rapidly under the same pressure. Using AI-driven image analysis, the team can precisely quantify how much a treatment improves that structural resilience.
Three Treatment Approaches
Dr. Ayuso's lab is pursuing three parallel strategies for EBS, all at different stages of development.
"We have a highly multidisciplinary team," Dr. Ayuso said in closing. "It's an example of how a team, where not everyone knew about EBS two years ago, thanks to support from EBRP, now has so many different people, with so many different backgrounds, working together for EB."
Dr. Ayuso opened with an important distinction: the treatments recently approved for dystrophic EB work because that subtype is driven largely by a deficiency in Collagen 7. Providing more Collagen 7 corrects the problem. EB Simplex is fundamentally different. Patients with EBS have plenty of Collagen 7. Their disease is driven by dominant negative mutations in keratin proteins, most often Keratin 5 or Keratin 14, which cause the structural filaments that hold skin cells together to collapse under mechanical stress. That means treatments designed for dystrophic EB won't work for EBS, and the research pipeline needs to reflect that.
Compounding the challenge: there are likely hundreds of distinct genetic alterations that can cause EBS, each potentially requiring a different therapeutic approach. Drug development is already expensive and slow. A highly personalized disease makes it even harder. That's where Dr. Ayuso's microphysiological systems come in.
Skin on a Chip
Microphysiological systems, or "organ on a chip" devices, are small platforms that allow researchers to grow patient-derived cells in a three-dimensional environment that mimics real tissue. Dr. Ayuso's lab uses these to build patient-specific skin constructs, essentially an avatar of a patient's skin that can be tested with multiple therapeutics quickly and affordably, without waiting months to generate a mouse model.
To measure mechanical integrity of the "skin on a chip", the lab uses a technique borrowed from engineering: applying controlled airflow or fluid pressure to skin cells on the chip and measuring how well they hold on. Healthy keratinocytes barely move. EBS keratinocytes detach rapidly under the same pressure. Using AI-driven image analysis, the team can precisely quantify how much a treatment improves that structural resilience.
Three Treatment Approaches
Dr. Ayuso's lab is pursuing three parallel strategies for EBS, all at different stages of development.
- Base Editing: A gene therapy approach that makes a precise, permanent correction to the pathogenic DNA mutation at the single-letter level. Rather than cutting or replacing entire genes, base editors chemically convert one nucleotide to another, flipping the mutation back to its correct form. The technology can be delivered directly to skin cells via lipid nanoparticles, the same delivery mechanism used in COVID and flu vaccines. Working with the Weissman Center at Wisconsin, the lab has optimized nanoparticles to achieve more than 90% delivery efficiency in EBS keratinocytes. For mutations that are highly compatible with base editing, the goal is eventually an in vivo approach: applying the editor directly to the skin, or delivering it systemically, without the need for grafting.
- Antisense Oligonucleotides (ASOs): For patients whose mutations are not well suited to base editing, ASOs offer an alternative. These are patient-specific DNA probes designed to bind to the pathogenic allele and silence it, while leaving the functioning copy intact. Using machine learning to map the accessibility of both the pathogenic and healthy sequences, the lab identifies the precise locations to target. Early results are showing a partial but measurable rescue of Keratin 14 expression in EBS cells.
- Drug Repurposing: Genetic therapies are promising but still need time. In the meantime, the lab is using microphysiological systems to screen FDA-approved compounds, originally developed for chronic wound healing in conditions like diabetes, to see if they might benefit EBS patients. One compound has demonstrated nearly double the wound healing speed compared to untreated EBS cells in early testing. The team is targeting a Phase 1B clinical trial for late 2027 or early 2028.
"We have a highly multidisciplinary team," Dr. Ayuso said in closing. "It's an example of how a team, where not everyone knew about EBS two years ago, thanks to support from EBRP, now has so many different people, with so many different backgrounds, working together for EB."
EBRP live Town Halls
Our monthly Live Town Halls help drive research and awareness with informative discussions led by trusted specialists and advocates in the EB space. Topics include current research, clinical trials, caring for loved ones with EB, and more. Town Halls are open to anyone interested in learning more about EB and the future of EB treatment and care. Check out more of our Town Halls here.
To register for our next Live Town Hall, click here.
To register for our next Live Town Hall, click here.
