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 

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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

Havva Ortabozkoyun | Gene Regulation | Best Researcher Award

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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

Paritha Arumugam | Gene Therapy | Best Researcher Award

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Dr. Paritha Arumugam | Gene Therapy | Best Researcher Award

Cincinnati Children's Hospital Medical Center | United States

AUTHOR PROFILE

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EARLY ACADEMIC PURSUITS

Paritha Arumugam's academic journey began at the University of Madras, Bharathi Women's College, where she earned her B.Sc. in Biochemistry in 1991. She continued her education at the University of Madras, Guindy Campus, obtaining her M.Sc. in Biochemistry in 1993, M.Phil. in Biochemistry in 1994, and Ph.D. in Biochemistry in 1998 under the mentorship of Shyamala Devi, C.S. Her academic excellence was recognized with numerous awards, including the Gold Medal for securing the first rank in her M.Sc. program and various other prestigious prizes from the University of Madras.

PROFESSIONAL ENDEAVORS

Dr. Arumugam's professional career is marked by significant roles in both academic and research settings. She served as a Postdoctoral Research Fellow at the Children’s Hospital Los Angeles (CHLA) from 2004 to 2006, under the guidance of Dr. Punam Malik in the Division of Hematology-Oncology. She later earned an M.S. in Drug Development from the University of Cincinnati in 2011, where she was advised by Kevin L. Skare. Her academic appointments at the University of Cincinnati College of Medicine and Cincinnati Children’s Hospital Medical Center (CCHMC) have been pivotal. She progressed from Research Instructor in Pediatrics (2015-2019) to her current position as an Assistant Professor in Pediatrics at the Translational Pulmonary Science Center, Division of Pulmonary Biology, beginning in October 2019.

CONTRIBUTIONS AND RESEARCH FOCUS ON GENE THERAPY

Dr. Arumugam's research has significantly advanced the fields of biochemistry and molecular biology, with a particular focus on translational pulmonary science. Her work on developing a novel cell transplantation therapy, specifically Pulmonary Macrophage Transplantation, earned her a plenary talk at the NHLBI Celebration of 15 Years of Basic and Translational Progenitor Cell Research in 2023. Her research has garnered numerous awards, including the Excellence in Hemoglobinopathy Research Award from the National Institutes of Health and multiple abstract and travel awards from the American Society of Hematology.

IMPACT AND INFLUENCE

Dr. Arumugam's impact extends beyond her direct research contributions. Her role in advancing clinical practices is underscored by her licensing and certification in Good Clinical Practice for clinical trials involving drugs and devices. Her expertise in conducting investigator-initiated studies according to FDA regulations and GCP has positioned her as a leader in the field, capable of managing investigational agents and overseeing the ethical conduct of clinical trials.

ACADEMIC CITES

Dr. Arumugam's academic excellence has been recognized with several citations and awards throughout her career. Notably, she has been a recipient of the Cincinnati Children’s Innovation Excellence Award in 2023 and the NHLBI Celebration of 15 Years of Basic and Translational Progenitor Cell Research Poster Award. Her scholarly contributions are also highlighted by her selection as a Translational Sickle Scholar by the National Institutes of Health.

LEGACY AND FUTURE CONTRIBUTIONS

Dr. Arumugam's legacy is defined by her dedication to advancing medical science and improving clinical practices. Her pioneering research on pulmonary macrophage transplantation and her contributions to hemoglobinopathy research underscore her commitment to translational science. Looking forward, Dr. Arumugam aims to continue her impactful research, mentor the next generation of scientists, and contribute to significant advancements in pediatric pulmonary biology and therapeutic developments.

NOTABLE PUBLICATIONS

Neutrophil extracellular traps activate IL-8 and IL-1 expression in human bronchial epithelia 2020(52)

FOXM1 nuclear transcription factor translocates into mitochondria and inhibits oxidative phosphorylation 2020(28)

Thrombin-PAR1 signaling in pancreatic cancer promotes an immunosuppressive microenvironment 2021(27)

Role of GM-CSF in regulating metabolism and mitochondrial functions critical to macrophage proliferation 2022(26)

A murine model of hereditary pulmonary alveolar proteinosis caused by homozygous Csf2ra gene disruption 2022(8)