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