Raphael Borie | Gene Regulation Epigenetics | Best Researcher Award

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 carriersEur Respir J, 2024

  • 📄 European Respiratory Society Statement on Familial Pulmonary FibrosisEur Respir J, 2022

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

  • 🧬 RTEL1 mutations and their phenotypic variabilityEur Respir J, 2019

  • 💊 Safety and efficacy of pirfenidone in telomerase mutation carriersEur Respir J, 2018

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

  • 🧬 New 2023 ACR/EULAR APS criteria performance in young patientsLetter, 2025

  • 🫁 A non-resolving cough: a case of familial pulmonary fibrosisBreathe, 2025

  • 🧬 PFMG2025: Genomic medicine in French healthcare systemReview, 2025

  • 💊 Efficacy of CFTR modulators in ABCA3-deficiency ILDOpen Access, 2025

  • 🧠 Neurological manifestations in VEXAS syndromeJournal of Neurology, 2025

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

  • 🧫 Recurrent respiratory papillomatosis with lung involvementEur Respir J, 2025

  • 🔍 RA-ILD: genetics to clinical overviewReview, 2025

  • 👶 Childhood ILD survivors in adulthood: European studyEur 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.

Robert Crawford | Gene Regulation Epigenetics | Epigenetics in Cell Biology Award

Dr. Robert Crawford | Gene Regulation Epigenetics | Epigenetics in Cell Biology Award

Dr. Robert Crawford, biomodal , United Kingdom

Dr. Robert Crawford, MEng, DPhil (Oxon), is a distinguished multi-disciplinary scientist and engineer with over 13 years of experience in the life sciences. His expertise spans the development, integration, and verification of DNA sequencing technologies, with a strong focus on genomic and epigenomic applications. He currently serves as Associate Director of Collaborations and Applications at biomodal, where he leads scientific and informatics teams to drive innovation and strategic partnerships. Previously, he played a key role at Illumina in integrating whole-genome sequencing solutions for in vitro diagnostics. Dr. Crawford’s academic journey began at the University of Oxford, where he earned a DPhil in Condensed Matter Physics and contributed to the foundational IP of Oxford Nanoimaging. His research has led to multiple high-impact publications, patents, and conference presentations. Passionate about scientific discovery and translational research, he continues to shape the future of epigenetics and molecular diagnostics.

Publication Profile: 

Orcid

Strengths for the Award:

Expertise in Epigenetics & Genomics – Dr. Robert Crawford has extensive experience in genomic and epigenomic sequencing, particularly in integrating DNA modifications like 5-methylcytosine and 5-hydroxymethylcytosine as biomarkers. His recent publications in Nature Structural & Molecular Biology demonstrate his contributions to the field.

Industry & Academic Impact – His transition from academia to industry has resulted in high-impact research, patents, and product development. At biomodal, he leads teams working on sequencing applications relevant to cell biology and epigenetics.

Innovation & Translational Research – He co-invented a single-molecule microscope (now a spin-out, Oxford Nanoimaging), showcasing his ability to translate fundamental research into real-world applications.

Collaborative Leadership – His role at biomodal involves leading collaborations with academic and commercial partners, demonstrating his ability to foster research in epigenetics and molecular diagnostics.

Areas for Improvement:

🔹 Further Independent Research – While his collaborative research is significant, leading an independent research program in epigenetics would further strengthen his case for this award.
🔹 Expanded Focus on Cell Biology Applications – While his work heavily focuses on DNA modifications, a deeper exploration into how these modifications impact broader cellular mechanisms could enhance his profile.

Education:

Dr. Robert Crawford obtained his DPhil (Oxon) in Condensed Matter Physics from St John’s College, University of Oxford, where he investigated single-molecule DNA sensors and transcription factor dynamics. His research was conducted under the supervision of Prof. Achilles Kapanidis in the Gene Machines Group. Prior to his doctorate, he completed interdisciplinary training at Oxford’s Life Sciences Interface Doctoral Training Centre, covering computational biology, medical imaging, biophysics, and bioinformatics. His undergraduate education culminated in an MEng in a related field, equipping him with strong analytical and engineering skills. Dr. Crawford’s academic foundation has been instrumental in his contributions to DNA sequencing technologies, super-resolution imaging, and epigenetics. His work at Oxford also led to the invention of a compact single-molecule microscope, which later became the basis for the spin-out Oxford Nanoimaging. His rigorous scientific background enables him to bridge fundamental research and commercial biotechnology applications.

Experience:

Dr. Robert Crawford’s professional career has spanned academia and industry, with a focus on genomics, epigenetics, and molecular diagnostics. At biomodal, he serves as Associate Director of Collaborations and Applications, leading teams in commercial and academic partnerships, technology demonstrations, and strategic initiatives. Previously, he spent nearly a decade at Illumina, where he played a key role in integrating end-to-end in vitro diagnostic whole-genome sequencing solutions. His expertise in troubleshooting, large-scale data analysis, and verification test planning has contributed to the successful deployment of cutting-edge sequencing platforms. In academia, he was a Research Fellow at the University of Oxford, pioneering single-molecule imaging techniques and co-inventing a compact microscope for biosensing. This work laid the groundwork for Oxford Nanoimaging, now a leading biotech company. Dr. Crawford’s blend of research innovation and industry execution has made him a driving force in the advancement of sequencing technologies.

Awards and Honors:

Dr. Robert Crawford has received several prestigious awards and research grants in recognition of his contributions to life sciences and engineering. In 2013, he was awarded a Junior Research Fellowship at Linacre College, University of Oxford, supporting his groundbreaking work in single-molecule microscopy. His postdoctoral research attracted over £160,000 in funding, including a £120,000 DSTL grant from the UK Ministry of Defence, a £10,000 BBSRC Sparking Impact award, and an EPSRC PhD Plus Scholarship worth £24,000. Additionally, he secured BBSRC Follow-on Funding through the Pathfinder scheme (£10,000) to advance the commercialization of his research. His patented work on compact microscopy led to the founding of Oxford Nanoimaging, which has raised over $109.4 million in funding. Through these achievements, Dr. Crawford has demonstrated a consistent ability to translate high-impact research into real-world applications, making him a strong contender for the Research for Epigenetics in Cell Biology Award.

Research Focus:

Dr. Robert Crawford’s research centers on the intersection of genomics, epigenetics, and molecular diagnostics, with a particular emphasis on developing and optimizing sequencing technologies. His work at biomodal explores the synergistic role of DNA modifications, such as 5-methylcytosine and 5-hydroxymethylcytosine, as biomarkers for early cancer detection. His recent studies highlight the critical regulatory function of OGT in global DNA methylation and transposable element suppression, advancing the understanding of epigenomic stability. During his time at Oxford, he developed a single-molecule fluorescence microscope for studying intracellular transcription factors, leading to significant breakthroughs in live-cell imaging. His research has been widely published in top-tier journals and has contributed to the development of cutting-edge sequencing workflows. With a strong commitment to translational science, Dr. Crawford’s work continues to push the boundaries of epigenetic research, making impactful contributions to early disease detection and precision medicine.

Publications Top Notes:

📌 20255-methylcytosine and 5-hydroxymethylcytosine are synergistic biomarkers for early detection of colorectal cancer – Nat Struct Mol Biol
🧬 2025OGT is a key regulator of global DNA methylation – Nat Struct Mol Biol
🧬 2025OGT prevents DNA demethylation and suppresses transposable elements in heterochromatin – Nat Struct Mol Biol (Accepted)
🔬 2015Compact Microscope – WO 2015059682 A1 (Founding IP for Oxford Nanoimaging)
💡 2013Long Lived Intracellular Single-molecule Fluorescence Using Electroporated Molecules – Biophys. J.
🧬 2013Non-covalent Single Transcription Factor Encapsulation Inside a DNA Cage – Angew Chem.

Conclusion:

Dr. Robert Crawford is an outstanding candidate for the Research for Epigenetics in Cell Biology Award due to his extensive expertise in genomic and epigenomic sequencing, strong research track record, and ability to bridge fundamental science with commercial applications. With his leadership in sequencing technology development and impactful publications, he is well-positioned to make continued contributions to epigenetics and cell biology. 🚀