Ying Wang | Chromosomal Abnormalities | Best Researcher Award

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Dr. Ying Wang | Chromosomal Abnormalities | Best Researcher Award 

Tongji medical college of huazhong university of science and technology | China

Author Profile

Scopus

【YING WANG: A DEDICATED HEMATOLOGY RESEARCHER】

🎓 EARLY ACADEMIC PURSUITS

Ying Wang’s passion for medicine began at a young age, inspiring her to pursue an extensive medical education. She completed eight years of rigorous training, which included five years of clinical medical study followed by three years specializing in hematology. During this time, she developed a strong interest in laboratory science and hematology technology. Her academic journey allowed her to master fundamental hematological knowledge and acquire essential experimental skills such as polymerase chain reaction (PCR), cell culture, and morphology. This foundation led her to continue her professional journey in the hematology laboratory upon graduation.

💼 PROFESSIONAL ENDEAVORS

Since 2008, Ying Wang has been working in the Hematology Laboratory of Tongji Hospital at Tongji Medical College, Huazhong University of Science and Technology. Her career began with a primary focus on cell morphology, which is the cornerstone of hematopathology. Over three years, she gained an in-depth understanding of the characteristics of different hematological testing methods, including morphology, immunology, cytogenetics, and molecular biology.

For the past seven years, her work has been centered on cytogenetics, particularly in chromosomal analysis and fluorescence in situ hybridization (FISH). Through dedicated training and hands-on practice, she has mastered G-banding chromosomal analysis and developed expertise in applying FISH techniques to malignant blood diseases.

Currently, she leads the Cytogenetics Group, overseeing four team members and ensuring the efficiency and accuracy of daily operations. Under her leadership, her team has successfully established cytogenetic analysis for blood diseases and has processed a significant volume of patient samples. Her contributions to the field are reflected in her authorship of two published research papers.

📝 CONTRIBUTIONS AND RESEARCH FOCUS ON CHROMOSOMAL ABNORMALITIES

Ying Wang’s research focuses on cytogenetic analysis in hematology, particularly in the chromosomal abnormalities associated with blood diseases. Her expertise in G-banding chromosomal analysis and FISH techniques has significantly enhanced diagnostic and prognostic capabilities in hematopathology. She has contributed extensively to the establishment and optimization of cytogenetic methodologies in her laboratory, leading to improved patient diagnoses and treatment strategies.

Despite the labor-intensive nature of cytogenetic analysis, she remains deeply passionate about her work. Knowing that her contributions provide crucial diagnostic and prognostic data to clinicians, she continues to dedicate herself to advancing the field of hematology.

🌟 IMPACT AND INFLUENCE

Ying Wang’s work has had a profound impact on the field of hematology, particularly in China. By pioneering cytogenetic analysis for blood diseases in her laboratory, she has played a critical role in improving diagnostic precision. Her leadership in the Cytogenetics Group has enabled her team to process a high volume of patient samples, ensuring timely and accurate results that guide treatment decisions.

Her research contributions have also influenced the broader scientific community through her publications. Additionally, her involvement as a member of the Hubei Medical Biology and Immunology Society demonstrates her commitment to professional collaboration and knowledge exchange within the field.

📊 ACADEMIC CITATIONS

Ying Wang has authored two peer-reviewed research papers focusing on cytogenetics and blood disease analysis. These publications have contributed to the scientific community’s understanding of chromosomal abnormalities in hematology. Her work continues to be cited by researchers working on similar topics, further solidifying her influence in the field.

💪 LEGACY AND FUTURE CONTRIBUTIONS

As she advances in her career, Ying Wang remains committed to furthering her expertise in hematology and cytogenetics. She acknowledges the limitations of her current knowledge and continuously seeks to expand her skills through further studies and international collaborations. She aspires to stay at the forefront of hematological advancements by engaging with leading laboratories worldwide.

Upon completing her further studies, she aims to implement cutting-edge techniques in her laboratory, thereby enhancing the quality and scope of cytogenetic analysis available to patients in China. Her long-term vision is to contribute to the continued evolution of hematology research and to provide even more precise and valuable diagnostic information for improved patient outcomes.

👨‍🎓 POSITIONS AND HONORS

  • 2008 – Present: Hematology Laboratory, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology (Specialized in Morphology and Cytogenetics).
  • 2017 – Present: Member, Hubei Medical Biology and Immunology Society, China.

📑NOTABLE PUBLICATIONS

"Increased Epstein‒Barr virus reactivation following prophylaxis for cytomegalovirus infection after haploidentical haematopoietic stem cell transplantation" 

  • Authors: X., Kong, Xin , Z., Xu, Ziyi , Y., Wu, Yanjun , Y., Zhao, Ye , F., Chen, Feng
  • Journal: Journal of Hematology and Oncology
  • Year: 2024

" Reduced-dose chemotherapy and blinatumomab as induction treatment for newly diagnosed Ph-negative B-cell precursor acute lymphoblastic leukemia: a phase 2 trial " 

  • Authors: J., Lu, Jing , H., Qiu, Huiying , Y., Wang, Ying , Y., Zhu, Yu , S., Chen, Suning
  • Journal: Journal of Hematology and Oncology
  • Year: 2024

"CD19 CAR T-cell therapy in relapsed TCF3-HLF-positive B-cell acute lymphoblastic leukemia" 

  • Authors: Y., Yao, Yao , J., Zhou, Jin , Y., Li, Yanting , D.P., Wu, De Pei , Y., Wang, Ying
  • Journal: Annals of Hematology
  • Year: 2024

"Risk factors for in-hospital mortality in recipients of allogeneic hematopoietic stem cell transplantation with acute respiratory distress syndrome: a retrospective study based on the 2023 new definition of acute respiratory distress syndrome " 

  • Authors: S., Guo, Shiqi , D., Xie, Dan , Y., Gao, Ye , Y., Wang, Ying , Q., Guo, Qiang
  • Journal: BMC Pulmonary Medicine
  • Year: 2024

"A phase II study of belumosudil for chronic graft-versus-host disease in patients who failed at least one line of systemic therapy in China " 

  • Authors: Y., Wang, Ying , D.P., Wu, De Pei , X., Zhang, Xiang , Y., Wang, Yu , Y., Zhang, Ying
  • Journal: BMC Medicine
  • Year: 2024

Pinelopi Petropoulou | Diabetes | Best Researcher Award

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Dr. Pinelopi Petropoulou | Diabetes | Best Researcher Award

University of West Attica | Greece

Author Profile

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Orcid ID

📚 DR. PINELOPI PETROPOULOU: A MULTIFACETED EXPERT IN DENTISTRY AND PUBLIC HEALTH

📖 EARLY ACADEMIC PURSUITS

Dr. Pinelopi Petropoulou was born and resides in Athens, Greece. She pursued her academic journey in Dentistry at the Kapodistrian University of Athens. Demonstrating a commitment to specialized knowledge, she furthered her education with post-graduate studies in Periodontology and Prosthodontics at the English-speaking Witten/Herdecke University in Germany. Additionally, she completed advanced training in Implantology at the German Academy of Practice and Science (APW).

Her dedication to multidisciplinary expertise led her to become certified as a Laser Safety Officer by Aachen University and to receive certification from Demokritos for operating a Radiological Laboratory in Athens. Moreover, she is currently a Ph.D. candidate (PhDc) in Oncology Care at the University of West Attica and has pursued postgraduate studies in Planning and Implementing Gender Equality Policies at the Pedagogical Department of the University of the Aegean.

💼 PROFESSIONAL ENDEAVORS

Dr. Petropoulou operates a private dental clinic in Athens, where she applies her extensive expertise in periodontology, prosthodontics, and implantology. Her clinical practice is distinguished by a patient-centered approach and the integration of advanced medical technologies.

In addition to her clinical work, Dr. Petropoulou serves as a reviewer for several prestigious scientific journals, including the International Journal of Science, Technology and Society, Cureus, and Social Work: Review of Social Sciences. Her academic contributions extend to her role as an Academic Board Member for Global Open Share Publishing.

🔬 CONTRIBUTIONS AND RESEARCH FOCUS ON DIABETES

Dr. Petropoulou's research interests are diverse, encompassing oncology care, public health, and advanced dental practices. She specializes in the treatment of oncological patients and has a particular focus on "Global Public Health and Environment." Her participation in numerous scientific conferences and her publications in peer-reviewed journals reflect her commitment to advancing knowledge in these fields.

Her work bridges the gap between dental health and broader public health concerns, contributing valuable insights into patient care and community health initiatives.

🌍 IMPACT AND INFLUENCE

Dr. Petropoulou's influence extends beyond her clinical and academic work into social advocacy and public service. As a member of Doctors of the World, she volunteered for the 2014-2015 primary schools dental problems registration and prevention campaign, earning recognition for her contributions.

She holds leadership roles in several prominent organizations, including:

  • Vice-President of the Women's Union of Greece (EGE) in Athens
  • International Relations Advisor for the Association of Greek Women Scientists (SEE)
  • Secretary of the Communication and Interconnection Department of the Hellenic Solid Waste Management Association (EEDSA)
  • Member of Women for Oncology Hellas
  • Member of the Amnesty International Board in Greece

Her active engagement in these organizations underscores her commitment to social responsibility, gender equality, and environmental sustainability.

📊 ACADEMIC CITATIONS

Dr. Petropoulou's scholarly work is recognized through her contributions to scientific literature and peer-reviewed journals. Her role as a reviewer further emphasizes her expertise and dedication to maintaining high academic standards. Her multidisciplinary research has informed best practices in both dentistry and public health.

🏆 LEGACY AND FUTURE CONTRIBUTIONS

Dr. Pinelopi Petropoulou's legacy lies in her integrative approach to dental medicine, oncology care, and public health advocacy. Her work exemplifies a commitment to interdisciplinary collaboration and the translation of research into meaningful societal impact.

Looking ahead, she aims to continue advancing oncology care, promoting gender equality in healthcare policy, and expanding her research in global public health. Through her clinical excellence, academic contributions, and social activism, Dr. Petropoulou continues to shape the future of healthcare and public welfare.

🌟 OTHER NOTABLE ACHIEVEMENTS

  • Multilingual: Fluent in English and French
  • Certified Laser Safety Officer and Radiological Laboratory Operator
  • Recognized volunteer service with Doctors of the World

Dr. Pinelopi Petropoulou's career is a testament to the power of combining clinical expertise, academic rigor, and social commitment to effect positive change on both local and global scales.

NOTABLE PUBLICATIONS📑

"Research of the air pollution connection with the presence and evοlution of chronic diseases" 

  • Authors: P., Petropoulou, Pinelopi , I., Kalemikerakis, Ioannis , O., Govina, Ourania
  • Journal: Archives of Hellenic Medicine
  • Year: 2025

Jaina Razbek | Epidemiology | Best Scholar Award

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Dr. Jaina Razbek | Epidemiology | Best Scholar Award

Xinjiang Medical University | China

Author Profile

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Jaina Razbek, Ph.D. Candidate 🩺📊

Pioneering Research in Tuberculosis Prevention and Genetic Epidemiology

EARLY ACADEMIC PURSUITS 🎓

Jaina Razbek embarked on her academic journey with a strong foundation in public health and epidemiology. She is currently pursuing her doctoral studies at the Department of Epidemiology and Health Statistics, College of Public Health, Xinjiang Medical University. Her early academic training provided her with the skills to analyze disease patterns, conduct large-scale epidemiological studies, and develop statistical models for public health interventions.

PROFESSIONAL ENDEAVORS & RESEARCH PROJECTS 🔬📚

Jaina's research primarily focuses on tuberculosis prevention and control, genetic epidemiology, and health economic evaluations. She has actively contributed to various prestigious research projects, playing critical roles in data organization, statistical analysis, and causal inference modeling.

Notable Research Projects:

🔹 Health Economic Evaluation of Early Screening and Preventive Treatment for Latent Tuberculosis Infection (2023-2025): Investigating cost-effectiveness models for TB prevention strategies.
🔹 Evaluation of Tuberculosis Prevention Models in Southern Xinjiang (2023-2024): Analyzing key intervention factors using cohort and implementation science frameworks.
🔹 Causal Effect Evaluation of the ‘Xinjiang Model’ for TB Prevention (2025-2028): Studying the impact of TB control policies through RE-AIM and stepped-cluster randomized trials.
🔹 Role of Vitamin D in Latent Tuberculosis Infection (2021-2024): Conducting causal inference studies on the effects of vitamin D in TB progression.

CONTRIBUTIONS & RESEARCH FOCUS ON EPIDEMIOLOGY🔍📖

Jaina’s research has significantly contributed to understanding the genetic and epidemiological factors influencing tuberculosis and metabolic diseases. Her studies focus on:

✅ Tuberculosis Prevention & Control – Developing early screening methods and evaluating intervention effectiveness.
✅ Genetic Polymorphisms & Disease Susceptibility – Examining the role of vitamin D receptor gene polymorphisms in TB.
✅ Public Health Strategies – Enhancing disease prevention strategies through statistical modeling and health economics.
✅ Epidemiological Methods & Causal Inference – Applying advanced statistical frameworks to investigate complex disease mechanisms.

IMPACT & INFLUENCE 🌍

Jaina's research has played a vital role in shaping tuberculosis prevention strategies in high-incidence regions like Xinjiang. Her contributions to causal inference in genetic epidemiology have furthered the understanding of gene-disease interactions, helping predict disease susceptibility and treatment responses.

Her involvement in major national and provincial-level research projects underscores her ability to bridge theoretical epidemiology with practical public health solutions.

ACADEMIC CITATIONS & SCHOLARLY OUTPUT 📑

Jaina Razbek has published multiple high-impact research papers in SCI-indexed journals, demonstrating her scholarly excellence. Some of her most notable publications include:

📄 Vitamin D Receptor Gene Polymorphisms Differentiated Between Tuberculosis Disease and Infection – Published in Infection and Drug Resistance (2024).
📄 Association of Serum Levels of TNF-α, IL-10, IFN-γ, and CXCL5 with Latent Tuberculosis – Published in Infection and Drug Resistance (2024).
📄 Causal Association Study of Metabolic Syndrome Development Using Longitudinal Data – Published in Scientific Reports (2024).
📄 Dynamic Progression and Risk Assessment of Metabolic Syndrome Using a Multi-State Markov Model – Published in Diabetes, Metabolic Syndrome, and Obesity (2022).
📄 Xinjiang Metabolic Syndrome Risk Prediction Model Using Interpretable Models – Published in BMC Public Health (2022).

These contributions have earned her widespread recognition, with citations in public health and epidemiology research worldwide.

LEGACY & FUTURE CONTRIBUTIONS 🔮

Jaina Razbek's research has laid the groundwork for improving tuberculosis prevention strategies through genetic and economic evaluations. Moving forward, she aims to:

🌟 Advance the field of epidemiological modeling for infectious diseases.
🌟 Develop precision medicine approaches for tuberculosis based on genetic susceptibility markers.
🌟 Integrate AI-driven analytics into public health decision-making.
🌟 Mentor future epidemiologists and expand global collaborations in disease prevention research.

CONCLUSION 🏆

Jaina Razbek is an emerging leader in epidemiology and public health research, with a deep commitment to disease prevention and health policy optimization. Her innovative research, impactful publications, and dedication to public health continue to shape the future of tuberculosis control and epidemiological science.

NOTABLE PUBLICATIONS📑

"Causal association study of the dynamic development of the metabolic syndrome based on longitudinal data" 

  • Authors: Razbek, J. , Bao, L. , Zhang, Y. , Daken, M. , Cao, M.
  • Journal: Scientific Reports
  • Year: 2024

"Vitamin D Receptor Gene Polymorphisms Differentiated Between Tuberculosis Disease and Infection: Causal Association Study" 

  • Authors: Razbek, J. , Chen, Y. , Yang, J. , Aili, A. , Cao, M.
  • Journal: Infection and Drug Resistance
  • Year: 2024

"Association Studies of Serum Levels of TNF-α, IL-10, IFN-γ and CXCL 5 with Latent Tuberculosis Infection in Close Contacts" 

  • Authors: Razbek, J. , Daken, M. , Chen, Y. , Wang, X. , Cao, M.
  • Journal: Infection and Drug Resistance
  • Year: 2024

"Opening the black box: interpretable machine learning for predictor finding of metabolic syndrome" 

  • Authors: Zhang, Y. , Zhang, X. , Razbek, J. , Daken, M. , Cao, M
  • Journal:BMC Endocrine Disorders
  • Year: 2022

"Construction of Xinjiang metabolic syndrome risk prediction model based on interpretable models" 

  • Authors: Zhang, Y. , Razbek, J. , Li, D. , Zhang, X. , Cao, M.
  • Journal: BMC Public Health
  • Year: 2022

Ehab Darwish | Host Genetics | Best Researcher Award

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Dr. Ehab Darwish | Host Genetics | Best Researcher Award

Author Profile

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Orcid ID

Faculty of Medicine, King Faisal University | Saudi Arabia

Biography of Dr. Ehab Mohamed Ibrahim Darwish: A Pioneer in Tropical Medicine, Gastroenterology, and Infectious Diseases 🌍

EARLY ACADEMIC PURSUITS 🎓

Dr. Ehab Mohamed Ibrahim Darwish embarked on his medical journey at Zagazig University, Egypt, where he earned his M.B., B.Ch. in Medicine in 1999. Driven by a passion for advancing his expertise in health sciences, Dr. Darwish pursued a Master’s degree in Tropical Medicine in 2004, followed by a Doctorate in Tropical Medicine in 2009. These foundational years shaped his deep interest in infectious diseases, hepatology, and gastroenterology, setting the stage for a dedicated career in medicine and research.

PROFESSIONAL ENDEAVORS 🏥

Dr. Darwish has held prestigious academic positions, including his role as an Assistant Professor of Gastroenterology, Hepatology & Infectious Diseases at Zagazig University. In June 2015, he joined King Faisal University in Saudi Arabia, where he currently serves as an Assistant Professor in the Department of Internal Medicine at the College of Medicine. His international experience has enabled him to bring a wealth of knowledge to his students and to the broader medical community in Saudi Arabia.

CONTRIBUTIONS AND RESEARCH FOCUS ON HOST GENETICS 📊

Throughout his career, Dr. Darwish has actively contributed to research in infectious diseases, hepatology, and gastroenterology. He has published numerous studies, several of which appear in Scopus-indexed and Web of Science journals. His research often addresses genetic factors in infectious diseases, an area where he has made impactful discoveries that are critical to understanding disease susceptibility and treatment response. Dr. Darwish's research accomplishments include 17 completed projects and 3 ongoing research initiatives, marking him as a prolific contributor to medical science.

IMPACT AND INFLUENCE 🌟

With a Scopus H-index of 3 and 61 citations, Dr. Darwish’s work has been recognized for its contributions to the fields of tropical medicine and infectious diseases. His research has provided essential insights into the prevention and treatment of various gastrointestinal and liver-related illnesses. Through both his teaching and research, he has influenced medical students and peers alike, emphasizing the importance of scientific inquiry in clinical practice.

ACADEMIC CITATIONS 📈

Dr. Darwish’s publications include six research articles in SCI and Scopus-indexed journals, underscoring his commitment to producing high-quality, peer-reviewed research. His work is frequently cited, reflecting his influence in tropical medicine and internal medicine. His dedication to understanding the genetic basis of infectious diseases has added a valuable dimension to his research, enhancing its applicability in both clinical and research settings.

LEGACY AND FUTURE CONTRIBUTIONS 🌍

Looking forward, Dr. Darwish aims to expand his research on genetics in infectious diseases, with plans to contribute to advancements in personalized medicine. His legacy is marked by his commitment to bridging clinical practice with research, fostering a generation of medical professionals trained in both the practical and theoretical aspects of medicine. Through continued collaborations, publications, and mentorship, Dr. Darwish is set to make lasting contributions to the global medical community.

OTHER SIGNIFICANT TOPICS AND PROFESSIONAL HIGHLIGHTS 🏆

  • Areas of Research: Dr. Darwish’s expertise spans infectious diseases, hepatology, and gastroenterology, focusing on improving patient outcomes in these critical areas.
  • Completed and Ongoing Research Projects: With 17 completed and 3 ongoing projects, Dr. Darwish has maintained a productive and impactful research portfolio.
  • Professional Memberships and Collaborations: His involvement in professional networks and collaborations has strengthened his contributions and broadened the scope of his research.

NOTABLE PUBLICATIONS 📑

"Value of Serum miRNA-96-5p and miRNA-99a-5p as Diagnostic Biomarkers for Hepatocellular Carcinoma, " 

  • Authors: Gharib, A.F., , Eed, E.M., Khalifa, A.S., Darwiesh, E., Essa, A.,
  • Journal: International Journal of General Medicine
  • Year: 2022

"BAR Score Performance in Predicting Survival after Living Donor Liver Transplantation: A Single-Center Retrospective Study " 

  • Authors: Zakareya, T. , Taha, M. , Elzohry, H. ,Deif, M. , Abbasy, M.
  • Journal:  Canadian Journal of Gastroenterology and Hepatology
  • Year: 2022

"Role of interferon gamma in SARS-CoV-2-positive patients with parasitic infections " 

  • Authors: Abdel-Hamed, E.F. , Ibrahim, M.N. , Mostafa, N.E. , Al-Khoufi, E.A. , Hindawi, S.I.
  • Journal: Gut Pathogens
  • Year: 2021

"Endoscopic removal of foreign bodies from the upper gastrointestinal tract: 5-year experience" 

  • Authors: Emara, M.H. , Darwiesh, E.M. , Refaey, M.M. , Galal, S.M.
  • Journal: Clinical and Experimental Gastroenterology
  • Year: 2014

"Endoscopic injection of autologous blood versus diluted epinephrine for control of actively bleeding gastroduodenal ulcers: A randomized-controlled study" 

  • Authors: Emara, M.H. , Darwiesh, E.M. , Bihery, A.S. , Zaher, T.I.
  • Journal: European Journal of Gastroenterology and Hepatology
  • Year: 2014

Giulia Pascolini | Neurodevelopmental Disorders | Best Researcher Award 

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Dr. Giulia Pascolini | Neurodevelopmental Disorders | Best Researcher Award 

Dermopathic Institute of the Immaculate, IDI-IRCC | Italy 

Author Profile

Scopus 

Orcid ID

Google Scholar

🌟 Biography of Giulia Pascolini, MD, PhD

🎓 EARLY ACADEMIC PURSUITS

Giulia Pascolini's journey in medical science began with a Degree in Medicine from Sapienza University of Rome in 2008, which she completed with honors. Following this, she pursued specialization in Medical Genetics at Tor Vergata University of Rome, graduating with honors in 2015 after five years of in-depth study. Driven by her passion for genetics, Dr. Pascolini went on to earn her Ph.D. in Medical Genetics from Sapienza University in 2019, establishing her expertise in a rapidly advancing field. In 2022, she further expanded her knowledge with a Master of II level in Rare Diseases, also from Sapienza University, solidifying her role as a leading expert in rare genetic disorders.

🩺 PROFESSIONAL ENDEAVORS

Dr. Pascolini's professional career is marked by extensive experience across multiple prestigious institutions. Currently, she is a Clinical Geneticist and head of the Clinical Genetics Service at the Istituto Dermopatico dell'Immacolata (IDI-IRCCS) in Rome, Italy. Since September 2023, she also holds a position as Professor of Medical Genetics at the Faculty of Medicine and Surgery at Tor Vergata University of Rome. Over the years, she has held various roles, including serving as a clinical geneticist at Bambino Gesù Children’s Hospital and a researcher at San Camillo-Forlanini Hospital. Her long-standing commitment to clinical genetics spans over 15 years, with a focus on intellectual disability syndromes, dysmorphology, and developmental disorders.

🔬 CONTRIBUTIONS AND RESEARCH FOCUS ON NEURODEVELOPMENTAL DISORDERS 

Dr. Pascolini's research primarily centers around Developmental Disorders of Chromatin Remodeling (DDCRs), intellectual disability (ID) syndromes, and genodermatoses. She has played a crucial role in the study of the skin phenotype in rare genetic diseases, and her work on deep learning technologies for diagnosing genetic syndromes using facial phenotype recognition is groundbreaking. Her involvement with FDNA Inc. and the DeepGestalt technology is a testament to her contributions to advancing medical genetics through innovative platforms. She is also a principal investigator for multiple research projects, including studies on rare cutaneous tumors and familial melanoma, with funding of over €47,000 for these projects.

🌍 IMPACT AND INFLUENCE

As a Scientific Board Member of the ADNP Syndrome Italian Association and an editorial board member of the Journal of Pediatric Genetics, Dr. Pascolini has made significant contributions to the broader medical community. Her work has helped shape new approaches to the clinical understanding of complex genetic disorders, particularly in rare diseases and neurodevelopmental syndromes. Through her collaborative efforts with international organizations and her academic roles, she continues to influence both current medical practices and future research directions.

📚 ACADEMIC CITES AND PUBLICATIONS

Dr. Pascolini has authored several impactful works, including her involvement in the DeepGestalt technology article on SETD5-associated intellectual disability published in the Journal of Translational Genetics and Genomics. Her contributions to book chapters, such as her writing on Genomic Copy Number Variants (CNVs) and Autism Spectrum Disorder (ASD), have added substantial value to academic literature. Her expertise has also been recognized through invitations to write for special issues in leading journals, enhancing her standing as a key voice in her field.

🏅 AWARDS AND RECOGNITION

In 2019, Dr. Pascolini was awarded the Franca Dagna Bricarelli Award for her clinical research on genetic mutations associated with the BAF complex. This prestigious award highlights her excellence in medical genetics and clinical research. Her contributions to the field, recognized by peers and institutions alike, reflect her profound impact on the study and treatment of genetic disorders.

🌟 LEGACY AND FUTURE CONTRIBUTIONS

With her leadership in clinical genetics, active research on rare skin diseases, and innovative work in genetic syndrome diagnostics, Dr. Pascolini is poised to continue shaping the future of medical genetics. Her contributions to understanding the genetic basis of intellectual disabilities and her work on cutting-edge diagnostic technologies ensure her legacy as a pioneering figure in genetics. As she continues her role in both clinical and academic settings, her future contributions will likely further advance the study and treatment of rare genetic conditions, helping countless individuals worldwide.

📑NOTABLE PUBLICATIONS 

"The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population" 

  • Authors: Pascolini, G. , Lipari, M. , Gaudioso, F. , Di Zenzo, G. , Didona, B.
  • Journal: Molecular Genetics and Genomic Medicine
  • Year: 2024

"Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant" 

  • Authors: Gnazzo, M. , Pascolini, G. , Parlapiano, G. , Novelli, A. , Baban, A.
  • Journal: Clinical Genetics
  • Year: 2024

"Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series" 

  • Authors: Pascolini, G., Di Zenzo, G., Panebianco, A., Didona, B., Gozes, I.
  • Journal: American Journal of Medical Genetics
  • Year: 2024

"Ectoderm-derived findings in Aymè-Gripp syndrome" 

  • Authors: Pascolini, G., Di Zenzo, G., Morani, P., Didona, B., Panebianco, A.
  • Journal: Journal of Dermatology
  • Year: 2024

"Defining the clinical spectrum of ichthyosis follicularis, atrichia and photophobia clinical association type 1 (IFAP1)" 

  • Authors: Pascolini, G., Fortugno, P., Chandramouli, B., Didona, B., Castiglia, D.
  • Journal: European Journal of Dermatology
  • Year: 2023