Clinical academic dermatologist, interested in rare and common genetic skin diseases. Co-director of @HARPClinicalPhD #Blizard #QMUL #RoyalLondonHospital

London, England
Joined August 2012
Edel O'Toole retweeted
PC Project is excited to be at #ESDR2026, connecting with skin scientists from around the world! The annual meeting of the European Society for Dermatology Research brings together leading researchers from across the globe. Having a presence at this important meeting - and building relationships and collaborations with scientists - is an important part of moving PC and related pEDDs research forward. Are you a researcher attending ESDR? Come by the PC Project table to say hello! And be sure to join our special PC Project session on Thursday - with lunch included! We look forward to seeing you there! 💙
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Edel O'Toole retweeted
Researchers, please join us for a special lunch session at the ESDR! During the European Society for Dermatological Research (ESDR) Annual Meeting on September 10, 2026, from 13:15-14:15 in Hall 2B at the Heidelberg Congress Center, Germany, PC Project will have a scientific session titled: Rare Skin Diseases, Broad Insights: Keratin Biology to Therapeutic Innovation in Pachyonychia Congenita and Related Painful Palmoplantar Epidermal Differentiation Disorders This featured session will highlight the latest scientific and clinical advances in PC and related pEDDs. International experts will discuss disease mechanisms, innovative disease models, and emerging therapeutic approaches, demonstrating how research in rare skin diseases continues to provide important insights into skin biology and translational medicine. See the full program: pachyonychia.org/pc-project-… #EndThePain #RareDisease #PPKs #pEDDs #Pachyonychia
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This is funny but great that Mayo has Sam 💚❤️
MidWest Radio meltdown during the last minutes of the Mayo match. Volume DOWN 🤣
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Edel O'Toole retweeted
One Test Can Change a Life On Genetic Testing Action Day, we're celebrating the power of answers. For people with suspected Pachyonychia Congenita (PC) and other palmoplantar Epidermal Differetiation Disorders (pEDDs), symptoms can look very similar, making a clinical diagnosis difficult - and sometimes impossible without genetic testing. That's why PC Project has provided free genetic testing to thousands of individuals worldwide and advocates for diagnostic genetic testing to become the standard of care for patients with pEDDs. A genetic diagnosis can: provide answers connect people with the right community open doors to research and clinical trials help move science forward Because the right diagnosis changes everything. 🧬 Learn more, share this post, and help more families find answers. #EndThePain #DrivenByLoveGuidedByScience #GeneticTestingActionDay #RareDisease
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Edel O'Toole retweeted
"Patients misdiagnosed for years with dry skin condition" A heartbreaking reality, but our piece with Healthcare Today is now high in Google News search globally for #ichthyosis! 🚀 Massive thanks to Prof @EdelOToole and our brave community. healthcaretoday.com/article/…
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Edel O'Toole retweeted
More than 2 billion people worldwide live with skin diseases, yet many lack access to proper diagnosis and treatment. Today, on World Skin Health Day, we recognize the daily impact for those living with Pachyonychia Congenita and other pEDDs. Skin health is about much more than skin. It's about walking without pain. It's about joining in instead of sitting out. It's about quality of life. At PC Project, we're working toward a future where everyone in our disease space can get a correct diagnosis and real treatments to #EndThePain. #WorldSkinHealthDay #RareDisease #DrivenByLoveGuidedByScience
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Edel O'Toole retweeted
PC Project and data from our registry were represented by researchers from Queen Mary University of London during the 106th Annual British Association of Dermatologists Conference in Manchester, England, June 30–July 2, 2026. Dr. Rebecca McCarthy presented important findings on Pachyonychia Congenita (PC) in children, and Dr. Marianne de Brito presented new discoveries related to PC cysts (steatocystomas). Much of this significant research was made possible through the use of de-identified data from PC Project's International Pachyonychia Congenita Research Registry. Thank you to all of our patients and families whose participation continues to increase the world's knowledge and understanding of PC. Pictured with Dr. McCarthy in the first photo is Mandy Aldwin-Easton, co-founder of Ichthyosis Support Group (ISG), another rare Epidermal Differentiation Disorder (EDD) organization that collaborates with PC Project. #pachyonychia #EndThePain #pEDDs
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Edel O'Toole retweeted
Congratulations to Marianne de Brito on being named one of five winners of the Everett C. Fox Award at the American Academy of Dermatology Annual Meeting! This award recognizes the most outstanding clinical and laboratory research presentations, and each winner received a $700 grant. Marianne’s work, “Spatial Transcriptomics Provides New Insights Into the Early Pathogenesis of Steatocystoma Multiplex,” was also one of only 18 presentations selected from more than 100 applicants for a special symposium highlighting groundbreaking research by dermatology residents and fellows. Marianne’s research focuses on the painful cysts (steatocystomas) that so many of our K17 experience. At PC Project, we often talk about the severe foot pain that affects daily life, but it is equally important that those living with inflamed, painful cysts know they are seen, supported, and never forgotten. This aspect of PC matters deeply to our community, and we are so encouraged to see it receiving this level of scientific attention. Thanks to Marianne, and to her supervisor, Professor Edel O'Toole, for their excellence and commitment to improving life for PC patients. #EndThePain #AAD2026 #pachyonychia #pEDDs
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Edel O'Toole retweeted
We’re pleased to share that Janice Schwartz, Executive Director of PC Project, will be speaking at #AAD2026 on Monday, March 30! She will participate in the session “Think Like an Expert in Ichthyosis,” where she’ll help dermatologists better understand how to care for patients with palmoplantar Epidermal Differentiation Disorders (pEDDs). (PC and other pEDDs are part of the broader Epidermal Differentiation Disorder (EDD) family, which is why we are included in this session.) Janice will highlight the real needs of our #RareDisease community - emphasizing early and accurate diagnosis, multidisciplinary care, and the importance of collaboration across clinicians, researchers, and patient advocacy organizations like PC Project. 📍 Attending AAD? Come join the session or reach out - we’d love to connect! #pEDDs #Dermatology #ClinicalResearch #PatientAdvocacy #Genodermatoses
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Edel O'Toole retweeted
📜#mdpidermatopathology New Publication: Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases by Kira Süßmuth et al. Access for free: mdpi.com/3748758 #mdpidermatopathology #cornificationdisorders #ichthyoses
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Edel O'Toole retweeted
1/ We are excited to report in @SciImmunology that human complete and selective LFA-1 deficiency causes isolated Epidermodysplasia Verruciformis (EV). This surprising phenotype revealed a surprising mechanism 🙂science.org/doi/10.1126/scii…
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Rare Diseases: Closing the translation gap 💡 Spotlight with with LifeArc: what barriers face rare disease patients – and what it will take to translate advocacy and innovation into lasting treatments. newstatesman.com/spotlight/r…
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Edel O'Toole retweeted
Clinicians should carry out a straightforward spine check during routine bone scans to help detect osteoporosis problems sooner, the National Institute for Health and Care Excellence has recommended bmj.com/content/392/bmj.s68?…
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Edel O'Toole retweeted
Today in @Nature we report a new prime editing strategy that can rescue a common cause of many genetic diseases in a disease-agnostic manner. This approach converts a redundant endogenous tRNA into an optimized suppressor tRNA, enabling a single prime edit to rescue premature stop codons across different diseases. (1/15) drive.google.com/file/d/1bSv…
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Most people missed it. A study just showed something absolutely wild: A single CRISPR infusion cut people’s cholesterol and triglycerides in half. Yes - half. From one treatment. And if this holds up? Heart disease may never look the same again. Let me explain: The target was a gene called ANGPTL3 — a tiny switch in your liver that controls how much LDL (“bad” cholesterol) and triglycerides float in your blood. Some people are born with this gene naturally turned off. They live their whole lives with ultra-low lipids. And they almost never get heart disease. Nature gave us the blueprint. So researchers did something bold: They used CRISPR–Cas9 to recreate that natural mutation. Not a pill. Not an injection every 2 weeks. Not a lifetime of medication. Just one IV infusion designed to permanently switch off ANGPTL3. The results? In the highest-dose group: LDL dropped ~50% Triglycerides dropped ~55% After just 60 days From a single treatment. Let that sink in. This isn’t controlling cholesterol. It’s rewiring the biology that creates it. And yes - this all happened in humans. Not mice. Not petri dishes. Not hype. 15 real patients with severe lipid disorders got the therapy. Is it early? Extremely. But it’s the strongest signal so far that gene editing can target a common disease - not just rare ones. Why does this matter? Because cardiovascular disease is still the world’s #1 killer. We already have statins, PCSK9 inhibitors, lifestyle programs… But millions still can’t reach safe levels, can’t tolerate drugs, or can’t sustain lifelong treatment. A “one-and-done” therapy changes the entire game. Even the clinicians were stunned. “We can move from chronic therapy to something that’s one-and-done.” - Luke Laffin, Cleveland Clinic Imagine telling a patient: “You’ll never need cholesterol medication again.” That’s the scale of what’s being tested here. But here’s the catch - and it’s a big one: This is very early science. 15 people treated. Only ~2 months of data. Long-term risks unknown. CRISPR editing inside the body. Off-target effects must be monitored. Large trials will require thousands of participants No honest scientist will promise miracles yet. The real shift is this: For the first time, gene editing isn’t just for rare disorders. It’s stepping into the diseases that kill millions. Ten years ago, investors told researchers this would never happen. Too risky. Too expensive. Too ambitious. Now? Dozens of companies are racing to bring CRISPR to heart disease. The field flipped. The future is suddenly visible: CRISPR for high blood pressure. CRISPR for metabolic diseases. CRISPR for common cancers. CRISPR for high cholesterol. CRISPR for heart failure. CRISPR for diabetes. We’re watching the beginning of gene editing as mainstream medicine. Not science fiction. Science translation. If the safety data holds… If the lipid reductions are durable… If the therapy becomes affordable… Then the world’s #1 killer - heart disease - might finally meet a challenger stronger than any pill. And it started with 15 volunteers and one gene. That’s the story: CRISPR isn’t just fixing rare diseases anymore. It’s coming for the diseases almost everyone has. The next decade of medicine is going to look nothing like the last.
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Edel O'Toole retweeted
Fantastic thread 👇 if you care about who is going to treat you and your relatives ( @wesstreeting doesn’t) read on 👇 and share on your socials Thankyou @Anisocyte 🙏
Sadly it seems the Resident Doctor strikes are inevitable, and as usual @wesstreeting blames RDs and @theBMA for being unreasonable, that there’s no money. So I thought it’d be helpful to look at the workgroups Wes IS funding: ACPs 1/
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Online shopping for Christmas. Connemara sheep & Wool Centre | Gift Shop sheepandwoolcentre.com/?srsl…
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@wesstreeting why mandate online triage access w/out increasing GP capacity?! Employ the 1000s of unemployed GPs,so pts like this elderly pt w cancer don’t suffer. Evidently destroying the NHS thereby forcing vulnerable pts into private healthcare was your plan all along. 3/3
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Edel O'Toole retweeted
Thank you, Dr. Sancy Leachman, for the invitation to the Montagna Symposium in Oregon last week. What an amazing and fascinating research conference! We were especially impressed by the format and the many different activities that encouraged collaboration among all types of attendees. Even the organizers’ idea to place the break drinks and snacks on our PC Project exhibit table - bringing people directly to us - was genius and incredibly collaborative. The new connections made for PC Project and the overall experience made the conference worth the time and effort to attend. The double rainbow on the drive back to the airport seemed the perfect wrap up to a remarkable symposium. Thank you to the organizers for allowing PC Project - which focuses on advancing research - to have a presence at this extraordinary meeting, and again, thanks to Sancy for always looking out for PC Project and our patients!
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