University Health Authority of Central Friuli | Italy
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Biography of Flavio Faletra: A Leader in Medical Genetics 🧬
EARLY ACADEMIC PURSUITS 🎓
Flavio Faletra began his distinguished academic journey at the University of Trieste, where he earned a Degree in Medicine and Surgery in 2005. He further specialized in Medical Genetics at the same institution, completing his specialization in 2009. Demonstrating a strong commitment to his field, Faletra pursued advanced education with a Second-level Master’s degree in Clinical Genetics from the University of Siena in 2011. His foundational academic achievements laid the groundwork for a career focused on the intersection of genetics and clinical medicine.
PROFESSIONAL ENDEAVORS 🏥
Flavio Faletra has held multiple pivotal roles in medical genetics. Since August 2023, he has been an Expert in Genetics at the Regional Health Coordination Agency (ARCS) in Friuli Venezia Giulia, Italy. Alongside his expert role, he has been a University Lecturer on contract at the University of Trieste from 2018 to 2023, contributing to the academic growth of students in the field of genetics. His professional journey includes numerous positions as a Medical Director I Level in Medical Genetics, starting with the IRCCS Burlo Garofolo (2013–2017) and progressing through roles in University Health Authority Friuli Centrale and IRCCS Burlo Garofolo until his current position, reflecting his leadership in the medical genetics field.
Faletra’s research focus spans various critical areas of medical genetics, from pediatric endocrinology to rare genetic diseases. He has contributed extensively to genetic counseling and clinical genetics, with a strong emphasis on pediatric genetic disorders. His work as a Thesis Co-Surveyor and PhD Supervisor at the University of Trieste demonstrates his dedication to nurturing the next generation of geneticists. Through courses such as the Genetic Consulting in Medical Genetics Specialization School, he has shaped the landscape of medical genetics education. His involvement in pediatric endocrinology through ADE courses has brought syndromic genetic disorders to the forefront, significantly impacting the medical community’s approach to these conditions.
IMPACT AND INFLUENCE 🌍
Faletra’s influence extends beyond academia into clinical practice, where his expertise has helped shape genetic diagnostic strategies across Italy. His participation in national conferences, such as the National Congress of Human Genetics and seminars on genetic syndromes and diagnostics, marks him as a key figure in Italian medical genetics. Faletra's teaching and research efforts have particularly impacted the areas of growth retardation, fetal malformations, and syndromic genetic disorders, positioning him as a central figure in advancing genetic medicine in pediatrics.
ACADEMIC CITES 📚
Flavio Faletra's work has been cited in numerous academic publications, with topics ranging from genetic diagnostic methods to therapeutic approaches for rare genetic disorders. His research in exome sequencing and next-generation sequencing techniques has had a broad impact, being referenced widely in the fields of human genetics and pediatric medicine.
LEGACY AND FUTURE CONTRIBUTIONS 🏅
Faletra’s legacy lies in his dedication to medical genetics, particularly in the areas of pediatric syndromic diseases and clinical genetics. His contribution to education, research, and clinical practice has left an indelible mark on the field. Looking ahead, his ongoing role as an expert and lecturer promises continued contributions to genomic medicine and the advancement of personalized treatment for genetic disorders. Through his continuous involvement in research, teaching, and clinical practice, Faletra remains at the forefront of innovation in medical genetics, with the potential to further revolutionize the diagnosis and treatment of complex genetic diseases.
NOTABLE PUBLICATIONS 📑
"SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability"
- Authors: Bogaert, E., Garde, A., Gautier, T., Dermaut, B., Vitobello, A.
- Journal: American Journal of Human Genetics
- Year: 2023
"Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders"
- Authors:Di Stazio, M., Zanus, C., Faletra, F., d’Adamo, A.P., Musante, L.
- Journal: Genes
- Year: 2023
"A new neurodevelopmental disorder linked to heterozygous variants in UNC79"
- Authors: A., Liu, Z., Luo, S., Liao, W., & Ren, D.
- Journal: Genetics in Medicine
- Year: 2023
"The clinical impact of the first-trimester nuchal translucency between the 95th–99th percentiles"
- Authors: Fantasia, I., Catagini, S., Zamagni, G., Feresin, A., & Stampalija, T.
- Journal: Prenatal Diagnosis
- Year: 2023
"A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases"
- Authors: Zucco, J., Baldan, F., Allegri, L., Damante, G., Mio, C.
- Journal: Journal of Human Genetics
- Year: 2024