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Martin Laimer serves as Associate Professor and 1st senior physician at Paracelsus Medical University in Salzburg, Austria, with dual appointments in the Department of Dermatology and Allergology and the Research Program of Molecular Therapy of Genodermatoses. His clinical and research work focuses on rare genetic skin disorders, particularly various forms of epidermolysis bullosa. With over 179 research outputs spanning more than two decades, he has established himself as a leading expert in the field of genodermatoses and rare skin diseases. Dr. Laimer's research interests center on clinical trials for rare dermatological conditions, molecular therapies for epidermolysis bullosa, and the challenges of conducting research on ultra-rare diseases. His work addresses critical issues in trial design, patient recruitment, and treatment efficacy for conditions affecting small patient populations. He has particular expertise in epidermolysis bullosa simplex, epidermolysis bullosa dystrophica, and associated squamous cell carcinoma. His recent publications demonstrate a consistent focus on advancing clinical trial methodologies for rare diseases, with significant contributions to understanding treatment approaches for epidermolysis bullosa variants. His research spans molecular genetics, clinical dermatology, and therapeutic interventions, with an emphasis on translating basic science discoveries into clinical applications. Dr. Laimer has led multiple research projects, including EB Clinical Research initiatives in 2019 and 2022 as principal investigator, and served as co-principal investigator for a dual-center phase II trial on losartan for recessive dystrophic EB. His collaborative work extends to statistical methodology development for rare disease trials, reflecting his commitment to improving research approaches in this challenging field. As an active contributor to the academic community, Dr. Laimer has organized significant conferences including the ÖADF Summer School in 2023 and the 5th Austrian Congress for Rare Diseases in 2015. His leadership in these events underscores his role as a central figure in advancing rare disease research and clinical practice in Austria.

• Dermatology
• Genodermatoses
• Rare Diseases
• +5 more

Stefan Hainzl serves as a Research Associate at Paracelsus Medical University Salzburg, holding dual appointments in the Research Program for Molecular Therapy in Genodermatoses and the University Clinic for Dermatology and Allergology. With 82 publications spanning from 2010 to 2025, his research program demonstrates sustained productivity in molecular dermatology. Dr. Hainzl's research focuses on genetic skin disorders, particularly epidermolysis bullosa and related genodermatoses. His work spans multiple approaches including CRISPR-Cas gene editing , antisense oligonucleotide therapy , and molecular diagnostics . The research fingerprint shows strong concentration in revertant mosaicism (100%), epithelial-mesenchymal transition (100%), squamous cell biology (100%), and antisense applications (100%), with additional focus on oligonucleotide therapeutics and squamous cell carcinoma. Analysis of his recent publications reveals a clear trajectory toward developing molecular therapies for inherited skin disorders, with increasing emphasis on gene editing technologies. His 2024-2025 work shows particular focus on CRISPR applications for keratin disorders and splicing modulation approaches for recessive dystrophic epidermolysis bullosa. His scientific contributions include: Development of fluorescence-based screening for gene editing molecules Investigation of HMCN1 variants in epidermolysis bullosa CRISPR-Cas applications for keratin disorders Antisense oligonucleotide approaches for splicing modulation Dr. Hainzl frequently collaborates with senior researchers including Koller, Kocher, and Bauer, often contributing as co-author though occasionally serving as first author on significant therapeutic development papers. His work has gained attention across multiple platforms with mentions on social media, news outlets, and academic networks.

• Molecular Dermatology
• Genodermatoses
• Gene Therapy
• +4 more

Christina Guttmann-Gruber is a Researcher at the Department of Dermatology and Allergology, Faculty of Medicine, Paracelsus Medical University. She leads the Research Program for Molecular Therapy in Genodermatoses and has established herself as a prominent researcher in the field of rare skin disorders, particularly epidermolysis bullosa. Her research interests span across dermatology, molecular therapy, gene editing, skin cancer research, wound healing, drug repositioning, transcriptomics, stem cell research, and antisense therapy. She has focused extensively on epidermolysis bullosa, investigating molecular mechanisms, developing therapeutic approaches, and studying complications such as squamous cell carcinoma development in these patients. Analysis of her recent publications reveals a strong focus on innovative therapeutic strategies for epidermolysis bullosa, including gene editing techniques, antisense oligonucleotide therapies, drug repositioning approaches, and stem cell-based models. Her work bridges basic molecular research with clinical applications, aiming to translate scientific discoveries into tangible treatments for patients with rare skin disorders. Anton Luger Dissertations Preis (2009) Isidor Neumann Poster Preis (2011) Wissenschaftspreis in Bronze 2010 (2011) Non-Melanoma Skin Cancer Forschungspreis der Firma MEDA Pharma (2013) Sanofi Preis (2014) Dr. Guttmann-Gruber has successfully led multiple research projects focusing on epidermolysis bullosa, including investigations into wound healing mechanisms, squamous cell carcinoma development, and bacterial contributions to disease progression. She serves as a peer reviewer for prominent journals including PLOS ONE and NEOPLASIA, contributing to the scientific community through editorial activities. Her research program represents a comprehensive approach to understanding and treating genodermatoses, with particular emphasis on molecular therapeutic interventions.

• Dermatology
• Epidermolysis Bullosa
• Molecular Therapy
• +7 more

Thomas Kocher serves as a Research Associate and Privatdozent (equivalent to Associate Professor) at the Medical University of Graz, Austria, with dual appointments in the Research Program of Molecular Therapy of Genodermatoses and the Department of Dermatology and Allergology within the Faculty of Medicine. His work focuses on developing molecular therapies for rare genetic skin disorders, particularly epidermolysis bullosa, with substantial research output spanning from 2010 to 2025. Dr. Kocher's research interests center on molecular approaches to treat genodermatoses, with particular expertise in CRISPR-Cas gene editing technologies, antisense oligonucleotide therapies, and molecular screening systems for genetic skin disorders. His work specifically targets epidermolysis bullosa variants, keratin disorders, and intermediate filament abnormalities, with significant contributions to understanding how genetic mutations affect skin integrity and developing precision therapeutic approaches. Analysis of his recent publications reveals a consistent focus on translational research bridging molecular biology and clinical dermatology. His work demonstrates increasing sophistication in gene editing techniques, with recent papers exploring both CRISPR-Cas double nicking approaches and antisense oligonucleotide splicing modulation as therapeutic strategies. The research shows strong collaboration across multiple institutions, particularly with colleagues specializing in keratin biology and epidermolysis bullosa research. Dr. Kocher has presented his research at academic conferences, including a notable 2019 presentation on a minicircle-based screening system for CRISPR/Cas9 applications, which received attention across multiple social media platforms and academic networks. His work has accumulated significant citations, with several papers receiving double-digit citation counts in Web of Science. He maintains an active research laboratory focused on developing molecular screening systems and gene editing approaches for genodermatoses, with particular emphasis on creating fluorescence-based assays and precision gene correction techniques that minimize off-target effects while maximizing therapeutic efficacy for patients with inherited skin disorders.

• Molecular Genetics
• Dermatology Research
• Gene Therapy
• +5 more

Roland Zauner is a researcher affiliated with the Department of Dermatology and Allergology, focusing on molecular therapy for genodermatoses. His work primarily addresses rare skin disorders like epidermolysis bullosa and associated malignancies, employing approaches such as drug repurposing and microRNA analysis. Active in Pharmacology, Toxicology, and Pharmaceutical Science Research spans Epidermolysis Bullosa Dystrophica , Squamous Cell Carcinoma , and microRNA profiling Recent work includes drug repurposing for chronic wounds and biomarker discovery in rare malignancies His publications highlight expertise in protein modeling, yeast two-hybrid screening, and collagen type 7 modulation. Current projects involve exploring statins and diacerein for treating aggressive cutaneous tumors in recessive-dystrophic epidermolysis bullosa (RDEB) patients.

• Molecular Therapy
• Genodermatoses
• Epidermolysis Bullosa
• +4 more

Dr. Victoria Reichl is a researcher at the SALK Institute in the Department of Dermatology and Allergology . Her work focuses on molecular therapies for genodermatoses, particularly epidermolysis bullosa, combining RNA-based approaches and metabolic inhibition strategies. Recipient of the Clemens von Pirquet Prize (2009) from the Austrian Society of Allergology and Immunology (ÖGAI). Active in translational research, including RNA trans-splicing , COL17A1 reframing , and metabolic targeting in skin cancer . Her recent publications highlight advancements in non-invasive RNA therapy and anti-neoplastic strategies for aggressive cutaneous squamous cell carcinoma associated with epidermolysis bullosa. Scientific Awards: Clemens von Pirquet Prize (2009) Current research involves collaborations with multidisciplinary teams in the Research Program of Molecular Therapy of Genodermatoses , focusing on gene editing, metabolic pathways, and clinical applications for rare skin diseases.

• Molecular Therapy
• Genodermatoses
• Epidermolysis Bullosa
• +4 more

Dr. Sonja Dorfer is a Researcher affiliated with the Department of Dermatology and Allergology, where she leads the Research Program of Molecular Therapy of Genodermatoses. Her primary research explores therapeutic interventions for rare skin disorders through drug repositioning strategies and molecular analysis. She currently serves as Principal Investigator for the project 'Transcriptome-guided drug repurposing for the treatment of aggressive SCCs' (2023-2026). Her research focuses on: Developing miRNA-based diagnostics for squamous cell carcinoma in epidermolysis bullosa patients Repurposing FDA-approved drugs like diacerein for chronic wound management Epigenetic regulation in genodermatoses pathogenesis Biomarker discovery for rare dermatological malignancies She received scientific recognition including the ÖGDV Science Days Poster Price (2024) for contributions to dermatological research. Her publications demonstrate consistent focus on translating molecular findings into clinical applications for epidermolysis bullosa and related carcinomas.

• Drug Repositioning
• Transcriptome Analysis
• Epidermolysis Bullosa
• +3 more

Christine Prodinger is a researcher at the Department of Dermatology and Allergology at the Medical University of Graz, specializing in molecular therapy of genodermatoses. Her work focuses on scabies treatment, epidermolysis bullosa, and antipruritic therapies. Active in clinical research and systematic reviews Co-organizer of dermatology conferences and workshops Published 58 research outputs, including peer-reviewed articles and conference contributions Research interests include: Scabies treatment protocols Epidermolysis bullosa symptom management Comparative efficacy of topical therapies Clinical trials in dermatology Rare skin disorders Evidence-based dermatological practices Recent publications highlight her work on permethrin vs. benzyl benzoate for scabies and antipruritic therapies for epidermolysis bullosa. She frequently participates in academic events and contributes to clinical guidelines.

• Dermatology
• Allergology
• Molecular Therapy
• +5 more

Johann Bauer is a Senior Lecturer and Head of the Research Program for Molecular Therapy in Genodermatoses at the University Clinic for Dermatology and Allergology. He leads critical research initiatives in genetic skin diseases, with a focus on epidermolysis bullosa and related disorders. Role: Head of Department and Research Program Expertise: Molecular therapy, clinical trials, RNA editing His research spans genetic skin diseases , clinical trial design , and therapeutic development , with recent work on gene deletion mechanisms in Kindler syndrome and drug repositioning for chronic wounds. He has contributed to 2025 publications in epidermolysis bullosa , soft tissue infections , and oncology . Bauer's projects include "First in EB" Phase II trials of Rigosertib and the PACE study for critical limb ischemia, alongside collaborations with teams like Zimmermann and Laimer. He organizes FIZ Network! Seminars and participates in events like the ÖGDV Science Days .

• Epidermolysis Bullosa
• Genetic Disorders
• Clinical Trials
• +4 more

Johannes Bischof is a Research Fellow at the University Clinic for Dermatology and Allergology , focusing on molecular therapy for genodermatoses. His work encompasses gene editing technologies, antisense oligonucleotides, and RNA trans-splicing to address genetic skin disorders. Research Program: Molecular Therapy in Genodermatoses Key Affiliation: University Clinic for Dermatology and Allergology His research spans Epidermolysis Bullosa , CRISPR-Cas gene editing , and RNA splicing modulation . Recent studies highlight advancements in fluorescence-based gene editing assays and nickase off-target analysis. Notable trends in his publications include: Development of CRISPR-Cas systems for precise gene correction Antisense oligonucleotide applications in recessive dystrophic EB RNA trans-splicing strategies for skin equivalents Collaborations with experts like U. Koller and T. Kocher underscore his contributions to translational research in dermatology.

• Molecular Therapy
• Genodermatoses
• Gene Editing
• +3 more

Ulrich Koller is a Privatdozent (Associate Professor) and Research Group Leader at the University Clinic for Dermatology and Allergology, Paracelsus Medical University in Salzburg, Austria. He leads the Research Program for Molecular Therapy in Genodermatoses and maintains an active research profile with 151 publications and 4 ongoing research projects spanning from 2015 to 2025. Dr. Koller's research focuses on molecular therapies for rare genetic skin disorders, particularly epidermolysis bullosa. His work encompasses gene editing technologies, RNA-based therapies, and molecular interventions targeting skin disorders. He has made significant contributions to understanding the genetic basis of dermatological conditions and developing novel therapeutic approaches. His recent publications demonstrate a strong emphasis on translating molecular discoveries into clinical applications, with particular focus on CRISPR/Cas9-based gene editing, RNA therapeutics, and molecular diagnostics for genodermatoses. These works reflect a strategic progression from basic research to potential clinical translation for patients with severe skin disorders. Non Melanoma Skin Cancer Preis (MEDA Preis), 2013 Österreichischer Dermatologen-Preis (UNILEVER Preis), 2011 Otto-Kraupp Preis (4. Platz), 2020 Sanofi Preis, 2014 Sanofi Preis, 2016 Dr. Koller actively supervises research projects including work on fluorescent JEB cell lines for CRISPR molecule screening and has secured substantial research funding through multiple projects such as 'Effiziente COL17A1 Genreparatur über CRISPR/Cas9n' (2020-2025) and 'Entwicklung einer auf RNA basierenden Therapie' (2021-2024). He serves as a reviewer for journals including American Journal of Physiology Cell Physiology and regularly presents invited lectures on gene editing approaches for epidermolysis bullosa at international conferences throughout 2023-2024. His research group maintains active collaborations with multiple institutions and has developed specialized expertise in molecular diagnostics and therapeutic interventions for rare skin disorders.

• Epidermolysis bullosa
• Gene editing
• RNA therapy
• +6 more

Dr. Anja Diem is affiliated with the Department of Dermatology and Allergology and the Research Program of Molecular Therapy of Genodermatoses . Since 2003, she has published extensively in dermatology and rare disease research, focusing on epidermolysis bullosa (EB) and patient quality of life. She co-organized the EB2017 World Conference and contributed to European guidelines for rare skin disease care. Her research explores clinical trials, EB phenotypes, and patient-reported outcomes, with a strong emphasis on translational medicine and multidisciplinary approaches.

• Epidermolysis Bullosa
• Quality of Life
• Clinical Trials
• +3 more

Dr. Josefina Pinon Hofbauer is a dedicated researcher and group leader at the Research Program for Molecular Therapy in Genodermatoses within the University Clinic for Dermatology and Allergology at Medical University of Vienna. With over two decades of research activity, she focuses on genodermatoses , particularly epidermolysis bullosa , integrating gene editing , antisense oligonucleotides , and drug repositioning to develop innovative therapies. Research Themes : Her work bridges molecular therapy , scar formation , and collagen type VII biology, addressing critical challenges in rare skin disease clinical trials. Scientific Awards : Notable recognitions include the PMU Wissenschaftspreis Gold (2011) PMU Wissenschaftspreis Silver (2012) Sanofi Award (2011) Wilhelm Türk Preis (2010) Advising : She supervised Marie-Katharina Pichler's master's thesis on hyaluronic acid effects in epidermolysis bullosa keratinocytes. Leadership in Conferences : Actively organizing events like the ÖGDV Science Days (2023-2025) and participating in the EADV Congress 2024 as a guest speaker.

• Genodermatoses
• Epidermolysis Bullosa
• Gene Editing
• +5 more

Tobias Welponer is a researcher at the Department of Dermatology and Allergology, Paracelsus Medical University, Salzburg, Austria, where he leads the Research Program of Molecular Therapy of Genodermatoses at the Salzburger Landeskliniken (SALK). His work bridges clinical dermatology and genetic research, focusing on improving therapeutic strategies and patient outcomes for rare skin disorders through translational science and collaborative networks. His primary research interests center on Epidermolysis Bullosa (100% of his fingerprint), with significant contributions to Neurofibromatosis Type I, pruritus management, and quality-of-life assessments in genodermatoses. Recent work includes developing standardized screening protocols for pediatric neurofibromatosis in Austria and pioneering explainable AI applications for melanoma diagnosis, reflecting a multidisciplinary approach that integrates clinical practice with computational innovation to address unmet needs in rare disease care. Analysis of his 2024–2025 publications reveals a strong emphasis on harmonizing clinical trial outcomes for Epidermolysis Bullosa, evidenced by systematic reviews and consensus guidelines. His expansion into AI-driven diagnostics marks an emerging trajectory, combining dermatological expertise with machine learning to enhance diagnostic accuracy and clinician trust—highlighting a strategic shift toward technology-integrated solutions for complex skin conditions. Scientific Awards: LEO Pharma Young Researcher Award (2023) Dr. Welponer actively collaborates with the Austrian NF network and international consortia, as demonstrated by co-authorship on multi-center studies in high-impact journals. His leadership in the Molecular Therapy of Genodermatoses program drives translational research from bench to bedside, with ongoing projects focused on outcome standardization and novel therapeutic interventions for epidermolysis bullosa. While specific grant details are not provided, his prolific publication record and industry recognition (e.g., LEO Pharma award) indicate robust funding support and growing influence in dermatological research.

• Epidermolysis Bullosa
• Genodermatoses
• Neurofibromatosis
• +3 more