Raphael Borie | Gene Regulation Epigenetics | Best Researcher Award

Published on by Cell Biologist

Prof. Dr. Raphael Borie | Gene Regulation Epigenetics | Best Researcher Award

Prof. Dr. Raphael Borie, APHP, France

Dr. Raphaël Borie, born on August 15, 1977, in Paris, France, is a leading expert in pulmonology and genetic respiratory diseases. Currently a University Professor Hospital Practitioner at Bichat Hospital (Paris Cité University), he has consistently contributed to the advancement of respiratory medicine, particularly in the field of interstitial lung diseases (ILDs). His clinical insight, combined with a strong research portfolio, has positioned him as a prominent figure within the OrphaLung network. A dedicated family man with two children, Dr. Borie is widely respected for his integrity, leadership, and commitment to collaborative medicine. His career reflects a unique blend of academic excellence and impactful translational research, bridging the gap between genomics and clinical care in ILD. He is a registered member of the French Medical Council (Ordre des Médecins No. 75/71138), and his research has influenced European clinical guidelines and improved the understanding of rare genetic pulmonary conditions.

Publication Profile: 

Scopus

✅ Strengths for the Award:

  1. Robust Academic Background:
    Dr. Borie holds a PhD in Genetics, Master’s in Physiology, and HDR (habilitation to supervise doctoral research), which underlines his scientific credibility and ability to lead independent research.

  2. Clinical-Research Integration:
    As a University Professor and Hospital Practitioner, he merges frontline patient care with cutting-edge genetic and respiratory disease research.

  3. High Publication Impact:
    With 283 PubMed-indexed articles and an H-index of 60, Dr. Borie’s work demonstrates strong citation influence, indicating widespread recognition and utility in the scientific community.

  4. International Leadership:
    Active in multinational collaborations (e.g., OrphaLung, ERS), he has co-authored major position statements and clinical trials, influencing European respiratory care guidelines.

  5. Innovation in Rare Diseases:
    A recognized expert in familial interstitial lung disease and telomere disorders, his work has led to earlier diagnosis and targeted therapies—critical in fields where few experts exist.

  6. Recognition and Funding:
    He has secured prestigious mobility grants (ERS, Respirology Teachers College)—a marker of trust in his scientific mission and innovation.

🔍 Areas for Improvement:

  • Wider Public Health Translation: While Dr. Borie’s genomic research is exceptional, expanding into real-world health policy implementation could enhance systemic impact.

  • Patient Engagement & Advocacy: Developing patient-oriented tools or registries (e.g., digital apps or platforms for familial lung diseases) may broaden his outreach beyond academia and clinics.

  • Broader Visibility: Although highly cited in professional circles, participation in international keynote talks, editorial leadership, or mainstream health media could elevate his public and professional visibility.

🎓 Education:

Dr. Borie has pursued an extensive and rigorous academic path focused on respiratory and genetic medicine. He obtained his medical degree with specialization in Allergology and Immunopathology in 2006. A year earlier, in 2005, he earned a Master’s degree in Biology and Physiology of Circulation and Respiration. Demonstrating deep interest in genetics, he completed a PhD in Genetics in 2017, contributing significantly to our understanding of genetic underpinnings in pulmonary fibrosis. In 2019, Dr. Borie achieved the prestigious Habilitation à Diriger des Recherches (HDR) from the University of Paris 7, enabling him to supervise doctoral research. His academic background illustrates a powerful integration of clinical expertise and molecular research—providing him with the tools to lead innovative research projects at the intersection of genomics and pulmonology.

🩺 Experience:

Dr. Raphaël Borie has over 15 years of experience in respiratory medicine. From July 2011 to August 2020, he served as a Hospital Practitioner in the Pneumology Department at Bichat Hospital under Professors Aubier and Crestani. Since September 2020, he has been a University Professor Hospital Practitioner in the same department, affiliated with Paris Cité University. He has contributed to patient care, education of medical students and residents, and cutting-edge research. As part of the OrphaLung network, he plays a critical role in advancing diagnostic tools and treatment approaches for rare lung diseases. He is recognized for his collaborative leadership and interdisciplinary contributions across genetics, immunology, and pulmonology. His international collaborations and authorship of over 280 PubMed-indexed publications demonstrate his ongoing commitment to improving patient outcomes through translational research.

🏆 Awards and Honors:

Dr. Borie’s research excellence has been recognized through several prestigious awards and scholarships. In 2017, he received the European Respiratory Society (ERS) Mobility Grant for his work on Identification of Preclinical Markers of Pulmonary Fibrosis, supporting international collaboration and advanced training. The same year, he was also honored with the Respirology Teachers College Mobility Grant, reinforcing his pioneering research on early detection of fibrotic lung disease. His selection for these awards highlights both scientific innovation and dedication to knowledge exchange. His leadership in multi-center studies and involvement in ERS guideline statements further reflect his status as a thought leader in interstitial lung disease. These honors are a testament to his influence in shaping the future of pulmonary genetics and translational respiratory medicine.

🔬 Research Focus:

Dr. Raphaël Borie’s research centers on familial and genetic interstitial lung diseases, particularly the molecular mechanisms behind pulmonary fibrosis, telomere biology, surfactant-related gene variants, and early detection strategies. He works extensively on identifying genetic risk variants (e.g., MUC5B, DSP) and their implications in idiopathic pulmonary fibrosis. Through his participation in the OrphaLung network, he supports genomic screening for hereditary lung disorders and contributes to developing European guidelines. His work bridges genomic medicine and clinical pulmonology, aiming for earlier diagnosis and personalized treatment approaches. He has led and co-authored critical studies on RTEL1 mutations, telomerase complex defects, and familial ILD phenotypes, helping clinicians globally understand the heterogeneity and systemic implications of genetic lung disorders. His collaborative international research ensures his findings are applied in practice to optimize long-term patient care.

📚Publications Top Notes:

  • 🧬 High risk of lung cancer in surfactant-related gene variant carriers – Eur Respir J, 2024

  • 📄 European Respiratory Society Statement on Familial Pulmonary Fibrosis – Eur Respir J, 2022

  • 🧪 Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants – Am J Respir Crit Care Med, 2022

  • 🧬 RTEL1 mutations and their phenotypic variability – Eur Respir J, 2019

  • 💊 Safety and efficacy of pirfenidone in telomerase mutation carriers – Eur Respir J, 2018

  • 🌐 Diagnosis and follow-up of familial ILD: International survey – BMC Pulmonary Med, 2025

  • 🧬 New 2023 ACR/EULAR APS criteria performance in young patients – Letter, 2025

  • 🫁 A non-resolving cough: a case of familial pulmonary fibrosis – Breathe, 2025

  • 🧬 PFMG2025: Genomic medicine in French healthcare system – Review, 2025

  • 💊 Efficacy of CFTR modulators in ABCA3-deficiency ILD – Open Access, 2025

  • 🧠 Neurological manifestations in VEXAS syndrome – Journal of Neurology, 2025

  • 💉 Real-life use of PEXIVAS reduced-dose regimen in vasculitis – Ann Rheum Dis, 2025

  • 🧫 Recurrent respiratory papillomatosis with lung involvement – Eur Respir J, 2025

  • 🔍 RA-ILD: genetics to clinical overview – Review, 2025

  • 👶 Childhood ILD survivors in adulthood: European study – Eur Respir J, 2025

🧾 Conclusion:

Dr. Raphaël Borie exemplifies the ideal candidate for the Best Researcher Award. His excellence spans across clinical expertise, academic distinction, and international research leadership, especially in genetic and familial interstitial lung diseases—a field with enormous unmet need. His consistent scholarly output, impactful collaborations, and patient-focused studies highlight a unique blend of depth and innovation. While further expansion into public health frameworks and patient engagement tools would be valuable, his profile already reflects a world-class researcher with transformative contributions to pulmonary medicine.

Fabian Fries | Gene Regulation Epigenetics | Young Scientist Award

Published on by Cell Biologist

Dr. Fabian Fries | Gene Regulation Epigenetics | Young Scientist Award

Dr. Fabian Fries , Universitätsklinikum des Saarlandes , Germany

Dr. Fabian N. Fries is a German ophthalmologist and senior consultant at Saarland University Medical Center. Born on July 18, 1990, in Germany, he has cultivated a career marked by clinical excellence, research productivity, and international experience. Following his medical studies at Saarland University, he gained practical experience across the U.S., Brazil, and Germany. Dr. Fries has authored over 15 peer-reviewed publications and earned an H-index of 16, reflecting his impactful contributions in ophthalmology. A polyglot and DAAD scholar, he is also actively engaged in professional societies like the German Ophthalmological Society. His research interests include corneal diseases, ocular surface disorders, and regenerative therapies involving limbal stem cells. Apart from his medical pursuits, he’s a competitive athlete, excelling in tennis and athletics. Dr. Fries combines clinical competence, research acumen, and a collaborative mindset, positioning him as an outstanding candidate for early-career research recognition.

Publication Profile:

Orcid

✅ Strengths:

  1. 📈 Strong Research Metrics

    • H-index: 16, i10-index: 22, and 742 citations—solid indicators of impactful and consistent academic output.

    • Authored 15 peer-reviewed publications in high-impact journals like The Ocular Surface, Experimental Eye Research, and International Journal of Molecular Sciences.

  2. 🧬 Innovative Research Focus

    • His work bridges molecular biology and clinical ophthalmology, especially in limbal stem cell deficiency, PAX6 gene regulation, miRNA expression, and corneal diseases.

    • Focus on translational science with direct implications for therapy and regenerative medicine.

  3. 🌍 International Exposure

    • Completed clinical internships in USA, Brazil, and Germany, showcasing adaptability, cultural competence, and international collaboration.

  4. 💼 Professional Leadership

    • Currently a Senior Consultant at Saarland University Medical Center.

    • Certified teaching assistant, actively mentoring young medical professionals.

  5. 🏅 Recognized Excellence & Extracurriculars

    • Multiple scholarships: DAAD, e-fellows.net, and Saarland University.

    • Athlete-scholar with national-level performance in tennis and athletics, highlighting discipline, commitment, and well-rounded personality.

  6. 🧠 Tech-Savvy & Multilingual

    • Proficient in SPSS, Java, SAP ERP, and fluent in 6 languages, positioning him uniquely for cross-disciplinary, global projects.

📉 Areas for Improvement:

  1. 🌐 Global Research Fellowships or Visiting Scientist Roles

    • While he has international clinical experience, postdoctoral research fellowships abroad (e.g., US, UK, or Japan) could further enrich his research perspective and expand collaborations.

  2. 📣 Greater Visibility as a Lead Investigator

    • Most of his studies are in collaboration with senior figures. More first-author or corresponding-author publications, and leading independent research grants, would bolster his profile.

  3. 🎤 Science Communication/Public Engagement

    • Active roles in public engagement, conferences, or science communication platforms would amplify his influence and visibility outside academic circles.

🎓 Education:

Dr. Fries completed his Abitur in Saarland, Germany in 2009 and subsequently pursued medicine at Saarland University, completing his state medical examination in 2016. His medical education was enriched by several international internships: Children’s of Alabama (USA), Instituto de Neurologia de Curitiba (Brazil), and various institutions in Germany. These experiences provided him with a strong foundation in global healthcare environments and interdisciplinary approaches to medical problems. His training emphasized ophthalmology, medical technology, and corneal research. In addition to his clinical education, he developed proficiency in research methodologies, statistical software (SPSS), and even programming in Java—an uncommon strength among clinicians. His multilingualism (German, English, French, Spanish, Portuguese, Latin) further reflects a well-rounded academic and professional profile. He has also received scholarships from the DAAD, Saarland University, and e-fellows.net. This robust educational background is a solid base for his continued clinical and academic excellence in ophthalmology.

💼 Professional Experience:

Dr. Fries is currently a Senior Consultant in Ophthalmology at Saarland University Medical Center (since 2021), where he also completed his residency (2016–2021). He brings over a decade of experience in clinical practice, teaching, and research. His clinical roles have spanned multiple specialties and continents, including stints at Children’s of Alabama, the Instituto de Neurologia de Curitiba, and top institutions in Germany. He has participated in pioneering electronic health record integration projects and led efforts in corneal transplant innovations. His experience also includes medical internships in both hospitals and private practices, providing a broad spectrum of exposure from surgical practice to patient-centered outpatient care. Additionally, he is a certified teaching assistant at Saarland University and has been actively involved in the supervision of junior residents and students. His commitment to high-standard care and continuous education is evident in his leadership roles and collaborative projects.

🏆 Awards and Honors:

Dr. Fries has received several academic and research accolades that highlight his potential as a leading young scientist. He was awarded scholarships from the prestigious DAAD (German Academic Exchange Service), Saarland University, and e-fellows.net, reflecting academic excellence and leadership. His athletic achievements include participation in the German University Tennis Championships (2015, 2016), where he won multiple regional titles and achieved a 5th place ranking in the German Team Athletics Championships (2014). In research, his contributions are recognized through a strong H-index of 16, 742 citations, and an i10-index of 22, underlining consistent and impactful scientific productivity. He is a member of key academic societies, including the German Ophthalmological Society, Professional Association of Ophthalmologists, and others since 2016. His well-rounded excellence in science, teaching, international exposure, and sports makes him an exceptional candidate for the Research for Young Scientist Award.

🔬 Research Focus:

Dr. Fabian Fries focuses his research on ocular surface diseases, particularly limbal stem cell deficiency, corneal dystrophies, and regenerative approaches in ophthalmology. His work dives deep into molecular mechanisms, such as PAX6 signaling, microRNA pathways, and retinoic acid signaling, all pivotal in corneal health and disease. Using advanced cell culture models and patient tissue analysis, his research offers insights into pathophysiological processes affecting corneal epithelial integrity. Additionally, he explores the impact of genetic mutations and inflammatory mediators on disease progression. Dr. Fries has contributed significantly to translational research, bringing lab discoveries into clinical settings, notably in corneal transplantation and novel therapeutic strategies. He also examines digital integration in ophthalmology via projects like FIDUS EHR implementation. His interdisciplinary, collaborative, and bench-to-bedside approach places him at the forefront of young clinician-scientists driving innovation in ophthalmology.

📚 Publications Top Notes:

  1. 🧬 Effect of MiRNA 204-5P Mimics and LPS on Retinoic Acid Signaling in Limbal Epithelial Cells

  2. 🔬 Decreased PAX6 and DSG1 in Corneal Epithelium of EBMD, SND, and Pterygium Patients

  3. 🧫 FABP5 and DSG1 Downregulation after PAX6 Knockdown in Limbal Cells

  4. 💻 Employee Survey Post-FIDUS EHR Introduction at Saarland Eye Hospital

  5. 👁 Endothelial Cell Density and Corneal Thickness Post-Keratoplasty for Acanthamoeba Keratitis

  6. 🩸 Intravenous Fibrinolysis for Nonarteritic Central Retinal Artery Occlusion – Feasibility Study

  7. ⚠️ Pronounced Band Keratopathy in Refsum’s Syndrome – Case Report

  8. 🔎 Unilateral Macular Pigment Epitheliitis in a 38-Year-Old – Diagnostic Insights

  9. 🧬 MicroRNA and Gene Expression Changes in Limbal Deficiency Modulated by PAX6 Mutation

  10. 🧠 Acute Visual Loss from Basilar Artery Aneurysm-induced Subarachnoid Hemorrhage

🏁 Conclusion:

Dr. Fabian N. Fries stands out as a highly qualified, ambitious, and impactful early-career scientist whose research bridges the gap between basic science and clinical innovation in ophthalmology. His contributions to ocular surface research, particularly in the context of limbal stem cells and gene regulation, are of significant academic and therapeutic value. He brings a unique mix of clinical excellence, internationalism, technological proficiency, and scientific curiosity.