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.

Dmytro Maltsev | Gene Regulation Epigenetics | Best Review Paper Award

Mr. Dmytro Maltsev | Gene Regulation Epigenetics | Best Review Paper Award

Mr. Dmytro Maltsev , O’Bogomolets National Medical University , Ukraine

Dr. Dmytro Maltsev is a Ukrainian neuroimmunologist, physician-scientist, and clinical researcher with a PhD in medicine. He serves as the head of the Laboratory of Immunology and Molecular Biology at the Research Institute of Experimental and Clinical Medicine, O’Bogomolets National Medical University, Kyiv. His extensive body of work spans neuroimmunology, autoimmune encephalitis, herpesvirus infections, and immune deficiencies. He is the author of 29 books and over 340 scientific papers, with 50 indexed in Scopus. His work has earned several prestigious awards, including recognition from the National Academy of Sciences of Ukraine and international congresses. He actively collaborates with institutions like the Mayo Clinic (USA) and the Institute of Neurosurgery (Ukraine). Dr. Maltsev is a member of multiple professional societies, including the European Academy of Neurology. His groundbreaking GBINS protocol for autistic spectrum disorder highlights his contributions to precision medicine and multidisciplinary approaches in neuropsychiatric care.

Publication Profile: 

Orcid

✅ Strengths for the Award:

  1. Pioneering Work:
    Dr. Maltsev’s systematic review on herpesviral encephalitis presents a groundbreaking clinic-radiological classification, offering a unifying framework that enhances clinical diagnostics and therapeutic planning.

  2. Depth and Breadth of Expertise:
    The review showcases deep neuroimmunological insight, drawing from over 340 publications, including 50 in SCOPUS, and extensive experience in both clinical and laboratory settings.

  3. Interdisciplinary Integration:
    He combines advanced techniques—PCR, ELISA, western blot, flow cytometry—with clinical observations, resulting in practical classifications and diagnostic pathways.

  4. Relevance and Timeliness:
    The review addresses a critical gap in understanding viral encephalitides, which are often misdiagnosed or under-reported, contributing to early interventions and improved patient outcomes.

  5. International Collaboration:
    Collaborative ties with the Mayo Clinic (USA) and leading Ukrainian research institutions add credibility and global relevance to his work.

  6. Proven Impact:
    Recognized for prior scientific excellence through national and international awards, including recognition from the National Academy of Sciences of Ukraine and the World Congress of Immunopathology.

🧭 Areas for Improvement:

  1. Editorial Involvement:
    Currently, Dr. Maltsev does not hold editorial roles, which could enhance his influence in shaping the field’s publication standards and peer-review frameworks.

  2. Digital Science Communication:
    Expanding public engagement via open-access formats, social media science explainers, or video summaries would amplify the reach of his reviews beyond academia.

  3. Visual Data Representation:
    While the review is methodically comprehensive, adding infographics, visual summaries, or interactive diagnostic flowcharts could enhance reader accessibility, particularly for multidisciplinary teams.

🎓 Education:

Dr. Dmytro Maltsev pursued his medical education and PhD at O’Bogomolets National Medical University in Kyiv, Ukraine. Early in his academic career, he displayed an interest in immunopathology and clinical biology. His PhD focused on the clinical and immunological aspects of herpesvirus infections and their role in neuroinflammatory diseases. His educational path included specialization in molecular biology techniques such as PCR, ELISA, immunofluorescence, and flow cytometry. His training also incorporated translational research and clinical diagnostics, equipping him with a multidisciplinary approach essential for modern neuroimmunology. With further professional development in clinical immunology and collaboration with international research groups, including the Mayo Clinic, Dr. Maltsev has refined his knowledge in personalized medicine. He actively mentors postgraduate students, and his research findings are frequently integrated into educational materials, including textbooks and monographs used in university-level instruction throughout Ukraine and abroad.

💼 Professional Experience:

Dr. Dmytro Maltsev has over 20 years of professional experience in neuroimmunology and molecular medicine. As the head of the Laboratory of Immunology and Molecular Biology at O’Bogomolets National Medical University, he leads research on immune system dysfunction, neurodevelopmental disorders, and viral neuropathology. His professional journey includes clinical consultancy, authorship of 29 medical books, and over 340 published studies. He has completed 8 major research projects and collaborated on 4 industry-funded studies. Dr. Maltsev also holds 16 patents and actively participates in international scientific communities. His work spans diagnostics, therapy innovation, and personalized medicine, including the creation of GBINS, a treatment framework for children with autism spectrum disorders. Recognized for pioneering work on minor immunodeficiencies and viral encephalitis classifications, he has received multiple national and international awards. Dr. Maltsev collaborates globally with neurologists and immunologists, contributing to consensus guidelines, systematic reviews, and cross-continental case studies.

🔬 Research Focus:

Dr. Maltsev’s research focuses on neuroimmunology, specifically immune-related neurological and psychiatric disorders. He investigates immunodeficiency syndromes, herpesvirus-induced encephalitis, autoimmune epilepsies, and autism spectrum disorders (ASD) associated with folate cycle genetic deficiencies. His work emphasizes personalized, multidisciplinary treatments through laboratory diagnostics like PCR, ELISA, immunoblotting, immunofluorescence, and flow cytometry. A core achievement is the GBINS protocol, offering a targeted therapy model for children with ASD. He also researches immunoglobulin E deficiency and alpha/beta-defensin involvement in oral cancer complications. His aim is to bridge immune dysfunction with neurological pathologies, improving diagnostic accuracy and patient outcomes. By classifying new immune-related diseases and pioneering treatment options, Dr. Maltsev contributes significantly to immunotherapy and neurorehabilitation. He also explores how AI can enhance diagnosis and therapy across various disciplines. His dedication to translational research supports the development of individualized care protocols, with ongoing global collaborations in Europe, the USA, and beyond.

📚 Publication Top Notes:

  1. 🧠 Clinic-radiological classification of herpesviral encephalitis in humans (Systematic review)

  2. 🧬 Integrative concept of pathogenesis and GBINS personalized multidisciplinary approach to ASD in children

  3. 💉 Risk factors for grade III radiation-induced mucositis in oral/oropharyngeal cancer therapy

  4. 🧫 Microbial infections in children with ASD and genetic folate cycle deficiency

  5. 🧪 Primary minor immunodeficiencies as a cause of immune-dependent pathology (Systematic review)

  6. 🌍 Global presence and penetrance of CSF1-related disorder

  7. 💊 Treatment of reactivated EBV, HHV-6, HHV-7 in children with ASD and folate cycle disruption

  8. 🤖 Trends in the use of AI in diagnosis and treatment

  9. 🛡️ Alpha/beta-defensins’ influence on immunity in oral/oropharyngeal cancer

  10. 🌐 Global presence of CSF1R-Related disorder: A multinational case series

🏁 Conclusion:

Dr. Dmytro Maltsev is highly deserving of the Best Review Paper Award for his exemplary scholarly contribution titled:
“Clinic-radiological classification of herpesviral encephalitis in humans (Systematic Review)”, published in the Journal of NeuroVirology (2025).

His work offers clinical utility, theoretical innovation, and a robust, evidence-based approach to a complex neuroinfectious condition. With continued emphasis on global engagement and editorial leadership, Dr. Maltsev is poised to remain a key thought leader in neuroimmunology.

Zhirong Tan | Gene Regulation Epigenetics | Best Researcher Award

Prof. Zhirong Tan | Gene Regulation Epigenetics | Best Researcher Award

Prof. Zhirong Tan  , Xiangya Hospital, Central South University , China

Professor Zhirong Tan is a leading Chinese expert in pharmacogenomics and clinical pharmacology. Currently a professor at Xiangya Hospital, Central South University, he also serves as the Director of the Pharmacogenetics and Pharmacokinetics Research Laboratory and Deputy Director of the Drug Analysis Center. He has been instrumental in over 300 clinical trials, pushing forward the frontiers of precision medicine, especially in colorectal cancer and Alzheimer’s disease. With over 20 SCI papers, multiple patents, and co-authorship of four books, he’s widely recognized for his work in pharmacokinetics and biomarker discovery. A national GCP and GMP inspector, Prof. Tan actively contributes to pharmaceutical regulation and innovation in China. His academic and industry partnerships reflect a robust foundation in translational research and real-world drug development.

Publication Profile: 

Google Scholar

✅ Strengths for the Award:

  1. Extensive Research Contributions
    Prof. Zhirong Tan has made outstanding contributions to clinical pharmacology, pharmacogenetics, and metabolomics over two decades. His research has provided critical insights into drug metabolism, biomarker discovery, and precision medicine, especially in colorectal cancer and Alzheimer’s disease.

  2. Prolific Publication Record
    With over 22 SCI-indexed publications (first or corresponding author) and 6 CSCD papers, Prof. Tan’s research has achieved over 3550 citations and an H-index of 33 on Web of Science—evidence of the high impact and recognition of his work.

  3. Strong National & Industry Collaborations
    He has participated in or led 300+ clinical trials and secured 5 “Million+” industry-funded projects, reflecting strong ties with both academia and industry. His leadership in national-level projects, such as the “Major New Drug Development” program, showcases his influence in China’s healthcare innovation.

  4. Intellectual Property and Innovation
    With 3 granted patents and 3 under review, Prof. Tan’s ability to translate research into practical applications is evident. His individualized esomeprazole dosing regimen highlights innovation at the clinical level.

  5. Regulatory & Policy Contributions
    As a national GCP/GMP inspector, he plays a pivotal role in drug trial ethics and compliance in China. He also holds leadership roles in pharmacogenomics committees, further demonstrating his commitment to public health advancement.

  6. Academic Mentorship and Editorial Work
    In addition to research, Prof. Tan contributes as a journal reviewer, co-author of four textbooks, and mentor to the next generation of scientists, reinforcing his role as a thought leader in the field.

🔍 Areas for Improvement:

  1. International Visibility
    While Prof. Tan’s national presence is remarkable, further international collaborations, invited keynotes at global conferences, or leading roles in global consortia could enhance his visibility and expand the influence of his work.

  2. Broader Publication Range
    Publishing more frequently in top-tier international journals (e.g., Nature, The Lancet, NEJM) would increase the global academic reach of his findings.

  3. Open Science & Data Sharing
    As the field moves toward transparency, incorporating open-access publications and shared data repositories could boost both reproducibility and citations.

🎓 Education:

Professor Zhirong Tan obtained his Ph.D. from Central South University, a premier Chinese institution, where he laid the groundwork for his expertise in clinical pharmacology and pharmacogenomics. He later pursued postdoctoral research at the School of Pharmacy, University of Maryland, Baltimore, one of the top pharmaceutical research institutions in the United States. This international experience enabled him to gain a global perspective in drug metabolism, biomarker identification, and translational pharmacology. His academic training focused on cutting-edge methodologies such as metabolomics, pharmacokinetics, and precision medicine. Through continuous education and research, he has built a reputation as a highly skilled pharmacologist whose work bridges basic research and clinical applications.

💼 Experience:

With a research career spanning over two decades since 1998, Professor Zhirong Tan has led and participated in numerous national-level and provincial-level projects, including China’s National Science and Technology Major Projects. He currently holds multiple leadership positions at Xiangya Hospital, Central South University. Over the years, he has completed major research grants from NSFC, the Hunan Province, and the Ministry of Science and Technology. As a GCP and GMP inspector, Prof. Tan has overseen more than 300 clinical trials, ensuring drug development meets regulatory and ethical standards. His experience also extends to industry collaboration, with successful execution of 5 “Million+” funded projects and influential roles in pharma-academic alliances. A frequent peer reviewer and contributor to international journals, his work influences both the scientific community and regulatory frameworks.

🔬 Research Focus:

Professor Tan’s primary research focus lies in clinical pharmacology, pharmacogenomics, and metabolomics, particularly for colorectal cancer and Alzheimer’s disease. His work aims to identify and validate biomarkers for disease diagnosis, drug efficacy, and toxicity prediction. A major contributor to China’s “Major New Drug Development” initiative, he has developed personalized esomeprazole dosing regimens by studying genetic polymorphisms, SNPs, and microRNA interactions. His research also explores the pathogenesis of Alzheimer’s disease using metabolomic profiling, offering insights into early detection and potential therapeutics. He applies advanced bioanalytical methods to understand inter-individual variability in drug metabolism and therapeutic response. His projects have real-world clinical implications, transforming how drugs are prescribed, regulated, and monitored. Through his pioneering work, Prof. Tan contributes significantly to the evolution of precision medicine in China.

📚 Publication Top Notes:

  1. 📊 Role of BCRP 421C>A polymorphism on rosuvastatin pharmacokinetics in healthy Chinese males

  2. ❤️ Gly389Arg polymorphism of β1‐adrenergic receptor and cardiovascular response to metoprolol

  3. 💊 CYP2C19 ultra-rapid metabolizer genotype affects voriconazole pharmacokinetics

  4. 🧬 HLA‐B35:01 allele as biomarker for Polygonum multiflorum–induced liver injury*

  5. 🌿 Repeated berberine administration inhibits cytochromes P450 in humans

  6. 💉 Effect of SLCO1B1 polymorphism on pharmacokinetics of nateglinide

  7. 🧪 Assessment of cytochrome P450 activity by five‐drug cocktail approach

  8. Plasma caffeine metabolite ratio linked to CYP1A2 polymorphisms

  9. 🔬 Inducibility of CYP1A2 by omeprazole associated with genetic polymorphism

  10. 🧫 Ile118Val polymorphism of CYP3A4 affects simvastatin lipid-lowering efficacy

📝 Conclusion:

Professor Zhirong Tan is a highly deserving candidate for the Best Researcher Award. His record of scientific excellence, clinical innovation, and regulatory leadership clearly positions him as a key contributor to modern pharmacology. His integrated approach—spanning basic science, clinical trials, and health policy—has had a measurable impact on patient care and drug development in China.

While there is room to further expand his global footprint, his accomplishments to date already demonstrate the caliber, commitment, and consistency expected of a world-class researcher.