Giulia Pascolini | Neurodevelopmental Disorders | Best Researcher Award 

Dr. Giulia Pascolini | Neurodevelopmental Disorders | Best Researcher Award 

Dermopathic Institute of the Immaculate, IDI-IRCC | Italy 

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🌟 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

Prof Xiuyun Liu | Neuropsychiatric Disorders | Best Researcher Award

Prof Xiuyun Liu | Neuropsychiatric Disorders | Best Researcher Award

Pharmaceutical School, Tianjin University | China

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Biography of Xiuyun Liu 🎓🧠

EARLY ACADEMIC PURSUITS 📚

Xiuyun Liu's academic journey is marked by a strong foundation in biomedical engineering, which she pursued at Tianjin University, China. She earned both her Bachelor’s and Master’s degrees from the College of Precision Instrument and Opto-electronics Engineering, showcasing her dedication to the intersection of engineering and medical science. Her academic excellence led her to the prestigious University of Cambridge in the UK, where she completed her Ph.D. in Clinical Neurosciences at Newnham College. Supported by the highly competitive Gates Scholarship, her research focused on groundbreaking areas within neurosciences, laying the foundation for her future contributions to medical research.

PROFESSIONAL ENDEAVORS 🏢

Dr. Liu's professional career is as impressive as her academic background. She began as a Postdoctoral Researcher in the Department of Physiological Nursing at the University of California, San Francisco. She then became a Research Fellow in the Department of Anesthesiology and Critical Care Medicine at Johns Hopkins University. These roles allowed her to deepen her research in critical care medicine and anesthesiology, contributing valuable insights to these fields. Currently, Dr. Liu serves as the Dean of the School of Pharmaceutical and Science Technology at Tianjin University, where she continues to influence the next generation of medical professionals.

CONTRIBUTIONS AND RESEARCH FOCUS ON NEUROPSYCHIATRIC DISORDERS🔬

Dr. Liu has made significant contributions to the field of neurocritical care and biomedical engineering. Her research focuses on the development of innovative technologies and methodologies in critical care and perioperative medicine. As the Executive Director of the National Neurocritical Medicine Innovation Center, she leads research initiatives that aim to revolutionize the management of neurological emergencies. Her work is also closely associated with the development of life support technologies, reflecting her deep commitment to improving patient outcomes in critical care settings.

IMPACT AND INFLUENCE 🌍

Dr. Liu's influence extends beyond her research. She holds key positions in various prestigious organizations, including being a member of the Research Committee of the Society of Critical Care Anesthesiologists (SOCCA) in the USA and the Vice President of the Life Support Technology Branch of the Chinese Medical Rescue Association. Her leadership in these roles underscores her impact on both national and international levels, shaping the future of critical care and anesthesiology.

ACADEMIC CITATIONS AND HONORS 🏆

Dr. Liu’s research has garnered significant attention, leading to numerous citations in academic journals and conferences. Her work has been recognized with multiple awards, including the MIT Innovators 35 Under 35 in 2023, the National Teaching Achievement Award, and the Outstanding Youth of Tianjin University. Additionally, she received the prestigious Bill Gates Scholarship during her time at Cambridge, a testament to her academic prowess and potential for future impact.

LEGACY AND FUTURE CONTRIBUTIONS 🌟

As a leading figure in neurocritical care and biomedical engineering, Dr. Liu's legacy is already being shaped by her contributions to medical research and education. Her future contributions are poised to continue influencing the fields of critical care, life support technology, and medical engineering. With her ongoing leadership roles and innovative research, Dr. Liu is set to leave a lasting impact on the global medical community, inspiring future generations of scientists and medical professionals.

NOTABLE PUBLICATIONS 📑

"Enhancing Motor Sequence Learning via Transcutaneous Auricular Vagus Nerve Stimulation (taVNS): An EEG Study" 

  • Authors: Chen, L., Tang, C., Wang, Z., Liu, X., Ming, D.
  • Journal: IEEE Journal of Biomedical and Health Informatics
  • Year: 2024

"Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms" 

  • Authors: Liu, X.-Y., Song, X., Czosnyka, M., Pang, M.-J., Ming, D.
  • Journal: Military Medical Research
  • Year: 2024

"Photoacoustic imaging in brain disorders: Current progress and clinical applications"

  • Authors: Liu, X., Li, H., Pang, M., Wu, Y., Ming, D.
  • Journal: VIEW
  • Year: 2024

"Heart-brain axis: low blood pressure during off-pump CABG surgery is associated with postoperative heart failure"

  • Authors: Liu, X.-Y., Mu, J.-J., Han, J.-G., Guo, Z.-G., Ming, D.
  • Journal: Military Medical Research
  • Year: 2024

"Molecular understanding of the therapeutic potential of melanin inhibiting natural products"

  • Authors: Pang, M., Xu, R., Xi, R., Liu, X., Ming, D.
  • Journal: RSC Medicinal Chemistry
  • Year: 2024

Havva Ortabozkoyun | Gene Regulation | Best Researcher Award

Dr. Havva Ortabozkoyun | Gene Regulation | Best Researcher Award

University of Miami Miller School of Medical / Sylvester Cancer Center | United States

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🧬 Havva Ortabozkoyun-Kara, PhD: Pioneering Epigenetics and Cancer Biology Researcher

🧑‍🎓 EARLY ACADEMIC PURSUITS

Havva Ortabozkoyun-Kara, PhD, embarked on her academic journey with a Bachelor of Science in Molecular Biology and Genetics from Middle East Technical University (METU) in Ankara, Turkey. Graduating with a stellar GPA of 3.80/4.00 in 2010, she demonstrated early on her dedication to understanding complex biological systems. Her education continued at Utrecht University in the Netherlands, where she pursued a Master of Science in Cancer Genomics and Developmental Biology. With a perfect GPA of 4.00/4.00, she excelled in this program, setting a strong foundation for her future research in cancer biology. Dr. Ortabozkoyun-Kara then achieved her PhD in Stem Cell Biology from New York University (NYU), where she graduated with a GPA of 3.89/4.00. During her doctoral studies, she delved into stem cell and developmental biology, further refining her focus on the mechanisms that drive cellular diversity and disease processes.

🧑‍🔬 PROFESSIONAL ENDEAVORS

Dr. Ortabozkoyun-Kara’s professional journey is marked by her extensive research experience in some of the most prestigious laboratories in the world. She began as a rotation student in the lab of Iannis Aifantis at NYU, where she explored the role of the ubiquitin system in cancer and stem cell function. Her doctoral research, conducted in the lab of Danny Reinberg at NYU School of Medicine, involved pioneering work on the insulation function of CTCF and the characterization of Polycomb Repressive Complex (PRC1) during differentiation. After completing her PhD, she continued her research as a Postdoctoral Fellow in the Reinberg Lab, focusing on gene regulation and the role of MAZ, CTCF, and other factors in disease processes. Currently, she holds a postdoctoral fellowship at the University of Miami Miller School of Medicine, where she is studying novel insulation factors on gene regulation during developmental and disease processes.

🔬 CONTRIBUTIONS AND RESEARCH FOCUS ON GENE REGULATION

Dr. Ortabozkoyun-Kara’s research has significantly advanced our understanding of epigenetics, stem cell biology, and cancer biology. Her work has centered on the intricate mechanisms of gene regulation, particularly the insulation functions that control the expression of Hox genes during development and in disease states. Through innovative CRISPR genetic screens and biochemical assays, she has identified key factors that cooperate with CTCF in these processes. Her research on the differences in Polycomb Repressive Complex composition during cellular differentiation has provided new insights into how these complexes contribute to the regulation of gene expression.

🌍 IMPACT AND INFLUENCE

Dr. Ortabozkoyun-Kara’s contributions to the fields of epigenetics and stem cell biology have had a profound impact on our understanding of how genetic and biochemical mechanisms lead to cellular diversity and disease. Her findings on the role of insulation factors in gene regulation have opened new avenues for research in developmental biology and cancer, influencing the direction of studies in these fields. Her expertise is recognized internationally, and she continues to collaborate with leading scientists to push the boundaries of what we know about gene regulation and its implications for human health.

📚 ACADEMIC CITATIONS

Dr. Ortabozkoyun-Kara’s work has been widely cited in the academic community, reflecting the importance of her contributions to the scientific understanding of gene regulation. Her publications in high-impact journals are frequently referenced by other researchers in the fields of molecular biology, genetics, and biochemistry. These citations underscore the relevance of her work to ongoing research and its potential to inform new therapeutic approaches for diseases linked to epigenetic regulation.

🏆 LEGACY AND FUTURE CONTRIBUTIONS

As Dr. Ortabozkoyun-Kara continues her research at the University of Miami, her legacy is one of innovation and discovery. Her future contributions are expected to further illuminate the complex mechanisms of gene regulation and their role in development and disease. With her deep expertise in epigenetics and stem cell biology, she is poised to make significant advances in the understanding and treatment of diseases driven by genetic and epigenetic alterations. Her work will undoubtedly continue to influence the fields of molecular biology and genetics for years to come, inspiring future generations of scientists.

💡 INNOVATIVE APPROACHES

Dr. Ortabozkoyun-Kara is known for her creative and methodical approaches to scientific research. She has developed novel genetic and biochemical methods that have expanded the toolkit available to researchers studying epigenetic mechanisms. Her work not only provides critical insights but also equips the scientific community with new strategies for investigating and manipulating gene expression in various biological contexts.

📑 NOTABLE PUBLICATIONS

"CRISPR and biochemical screens identify MAZ as a cofactor in CTCF-mediated insulation at Hox clusters" 

  • Authors: Havva Ortabozkoyun, Pin-Yao Huang, Hyunwoo Cho, Varun Narendra, Gary LeRoy, Edgar Gonzalez-Buendia, Jane A Skok, Aristotelis Tsirigos, Esteban O Mazzoni, Danny Reinberg
  • Journal: Nature Genetics
  • Year: 2022

"A CRISPR Screen Identifies Myc-associated Zinc Finger Protein (MAZ) as an Insulator Functioning at CTCF boundaries in Hox Clusters" 

  • Authors: Havva Ortabozkoyun-Kara, Pin-Yao Huang, Hyunwoo Cho, Varun Narendra, Gary Leroy, Jane A. Skok, Aristotelis Tsirigos, Esteban O. Mazzoni, Danny Reinberg
  • Journal: BioRxiv
  • Year: 2020

"Members of an array of zinc finger proteins specify distinct Hox chromatin boundaries"

  • Authors: Havva Ortabozkoyun, Pin-Yao Huang, Edgar Gonzalez-Buendia, Hyein Cho, Sang Kim, Aristotelis Tsirigos, Esteban Mazzoni, Danny Reinberg
  • Journal: bioRxiv
  • Year: 2023

"Members of a Family of Zinc Finger Proteins Demarcate Chromatin Boundaries at Hox Clusters during Development, Ortabozkoyun et. al"

  • Authors: Havva Ortabozkoyun, Pin-Yao Huang, Edgar Gonzalez-Buendia, Hyunwoo Cho, Sang Y Kim, Aristotelis Tsirigos, Esteban O Mazzoni, Danny Reinberg
  • Journal: Mendeley Data
  • Year: 2024

"Novel chromatin insulating activities uncovered upon eliminating known insulators in vivo"

  • Authors: Havva Ortabozkoyun, P. Huang, H. Cho, E. Mazzoni, A. Tsirigos, D. Reinberg
  • Year: 2023

Sara Salvador | Pharmacogenomics and Personalized Medicine | Best Researcher Award

Dr. Sara Salvador | Pharmacogenomics and Personalized Medicine | Best Researcher Award

Gregorio Maranon University Hospital | Spain

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EARLY ACADEMIC PURSUITS

Since 2017, I have been dedicated to advancing the field of pharmacogenetics, beginning as a research assistant and progressing through to postdoctoral researcher at the Pharmacogenetics Laboratory of the Gregorio Marañón General University Hospital. My journey started with foundational research roles and evolved into leadership positions within various pharmacogenomic studies.

PROFESSIONAL ENDEAVORS

Starting as a research assistant, I gradually transitioned to roles as a predoctoral and postdoctoral researcher, accumulating invaluable experience and expertise in pharmacogenetics. My work has been primarily focused on pharmacogenomic studies in diverse medical areas such as colorectal cancer, multiple sclerosis, psychiatry, and intestinal inflammatory diseases.

CONTRIBUTIONS AND RESEARCH FOCUS ON PHARMACOGENMICS AND PERSONALIZED MEDICINE

Throughout my career, I have actively contributed to 21 publications in pharmacogenomics, with a particular emphasis on colorectal cancer, multiple sclerosis, psychiatry, and intestinal inflammatory diseases. Of these publications, I served as the first author for 14, showcasing my significant contributions to the field. Notably, my doctoral thesis in 2020 centered on intestinal inflammatory disease, underscoring my commitment to advancing knowledge in this area.

IMPACT AND INFLUENCE

My contributions have not gone unnoticed, as evidenced by receiving the AEFA (Spanish Clinical Laboratory Association) award for quality and innovation in 2019. Additionally, my research has been recognized through presentations at 20 national and international conferences, including 5 oral communications. I have been honored with the best oral communication award at three conferences, highlighting the impact of my work.

ACADEMIC CITES

My research has contributed to the academic discourse, with citations in various publications, further validating the significance and influence of my work in pharmacogenetics awards and related fields.

LEGACY AND FUTURE CONTRIBUTIONS

As an active member of the Spanish Society of Pharmacogenetics awards and the Spanish Association of Human Genetics, I continue to contribute to the advancement and dissemination of knowledge in these critical areas of public health. My ongoing commitment to research and collaboration ensures that my contributions will continue to shape the future of pharmacogenetics.

NOTABLE PUBLICATIONS

Akshay Bhuvaneswari Ramakrishnan | Bioinformatics | Young Scientist Award

Mr. Akshay Bhuvaneswari Ramakrishnan | Bioinformatics | Young Scientist Award

Sastra University | India

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EARLY ACADEMIC PURSUITS

Akshay B R embarked on his academic journey by pursuing a Bachelor of Technology in Computer Science at Shanmugha Arts, Science, Technology and Research Academy, where he maintained a commendable CGPA of 7.4. Prior to this, he completed his high school education at Maharishi Vidya Mandir Senior Secondary School in Chennai, achieving a notable 72% in 2020.

PROFESSIONAL ENDEAVORS

Demonstrating a commitment to technological advancements, Akshay has been an influential Student Ambassador for Intel Since 2022. In this role, he effectively represented Intel Corporation, promoting the open-source oneAPI platform through various activities and events. Additionally, he has contributed significantly as a Research Assistant at the National Institute of Technology, engaging in research activities related to Advance Driver Assistance System (ADAS) and Brain Tumor Segmentation.

CONTRIBUTIONS AND RESEARCH FOCUS ON BIOINFORMATICS

Akshay's research focus has been on critical issues such as ADAS and Brain Tumor Segmentation. As a Research Assistant, he actively participated in literature reviews, data collection, and analysis. His contribution to developing research papers and presentations underscores his dedication to advancing knowledge in these domains.

IMPACT AND INFLUENCE

As a Clinical Data Analyst at Maruthi Hospital, Akshay applied his analytical skills to interpret clinical data, identify trends, and improve patient care. His work involved collaborating with healthcare professionals to implement data-driven solutions, showcasing a tangible impact on healthcare decision-making.

ACADEMIC CITES

Akshay's academic prowess is evident in his achievements, highlighted by his notable projects. The projects include an IoT-Based Epilepsy Detection Device, a Power BI Sales Dashboard for Zomato, and significant contributions to the field of ophthalmological disease classification and brain tumor detection using CNN architectures.

LEGACY AND FUTURE CONTRIBUTIONS

Akshay leaves a legacy of academic excellence and impactful contributions to technology and healthcare. His future contributions are anticipated to further shape the intersection of computer science, healthcare, and research, as evidenced by his continuous pursuit of knowledge and active involvement in cutting-edge projects.

Notable Publications

Optimizing brain tumor classification with hybrid CNN architecture: Balancing accuracy and efficiency through oneAPI optimization 2024