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Valentina Trevisan

Physician in Medical Genetics 1. Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy. · Fondazione Policlinico Gemelli IRCCS

https://researchid.co/valentina.trevisan
@policlinicogemelli.it
27Scopus Publications

Biography

Since young age I have been driven by a deep curiosity in human health and a strong desire to make a difference in people’s life that led me to pursue a career in Medicine. During my last year of medical training, the clinical experience at the hematopoietic transplant unit at Ospedale Pediatrico Bambino Gesù allowed me to realize firsthand that the limitations in current treatments and gaps in scientific knowledge are overcome only through research. I have therefore started a research fellowship in clinical immunology at Great Ormond Street Hospital in London focusing on a gene therapy trial and complete a board certification in Medical Genetics in Italy afterwards. My latest study focused on solid tumours in a large monocentric cohort of RASopathy individuals was selected for oral presentation in two different conferences (RASopathy meeting in Berlin and SIGU 2024), where I had the honor of presenting our findings and received an award in recognition of our work (Premio Mia Neri)

Education

INSTITUTION AND LOCATION: Università Cattolica del Sacro Cuore – Campus di Roma DEGREE: PhD candidate in Genetics Biomedical Sciences and Public Health YEAR(s): 3 years, 2023- ongoing FIELD OF STUDY: Human Genetics INSTITUTION AND LOCATION: Università Cattolica del Sacro Cuore – Campus di Roma DEGREE: Board certification in Medical Genetics YEAR(s): 4 years, 2018-2022 FIELD OF STUDY: Human Genetics INSTITUTION AND LOCATION: Università degli Studi di Pavia DEGREE: Master’s degree in Medicine and Surgery – Harvey Course YEAR(s): 6 years 2009-2015 FIELD OF STUDY: Medicine

Recent Scopus Publications

  1. 9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
    American Journal of Medical Genetics Part A, 2026
  2. Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype
    Clinical Genetics, 2025
  3. Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen
    American Journal of Medical Genetics Part A, 2025
  4. Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy
    Genes, 2025
  5. Parenting Stress Index in Caregivers of Individuals With Noonan Syndrome
    American Journal of Medical Genetics Part B Neuropsychiatric Genetics, 2025

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