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:
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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.
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Clinical-Research Integration:
As a University Professor and Hospital Practitioner, he merges frontline patient care with cutting-edge genetic and respiratory disease research.
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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.
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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.
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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.
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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:
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Wider Public Health Translation: While Dr. Borie’s genomic research is exceptional, expanding into real-world health policy implementation could enhance systemic impact.
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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.
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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:
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🧬 High risk of lung cancer in surfactant-related gene variant carriers – Eur Respir J, 2024
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📄 European Respiratory Society Statement on Familial Pulmonary Fibrosis – Eur Respir J, 2022
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🧪 Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants – Am J Respir Crit Care Med, 2022
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🧬 RTEL1 mutations and their phenotypic variability – Eur Respir J, 2019
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💊 Safety and efficacy of pirfenidone in telomerase mutation carriers – Eur Respir J, 2018
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🌐 Diagnosis and follow-up of familial ILD: International survey – BMC Pulmonary Med, 2025
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🧬 New 2023 ACR/EULAR APS criteria performance in young patients – Letter, 2025
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🫁 A non-resolving cough: a case of familial pulmonary fibrosis – Breathe, 2025
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🧬 PFMG2025: Genomic medicine in French healthcare system – Review, 2025
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💊 Efficacy of CFTR modulators in ABCA3-deficiency ILD – Open Access, 2025
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🧠 Neurological manifestations in VEXAS syndrome – Journal of Neurology, 2025
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💉 Real-life use of PEXIVAS reduced-dose regimen in vasculitis – Ann Rheum Dis, 2025
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🧫 Recurrent respiratory papillomatosis with lung involvement – Eur Respir J, 2025
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🔍 RA-ILD: genetics to clinical overview – Review, 2025
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👶 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.