Dr. Federica Russo | Molecular genetics | Best Researcher Award
Dr. Federica Russo, Casa Sollievo della Sofferenza, Italy
Dr. Federica Russo is an Italian biomedical researcher specializing in medical genetics and rare Mendelian disorders. She is currently pursuing her PhD in Biosciences and Biotechnology at Università degli Studi di Bari “Aldo Moro,” in collaboration with IRCCS Fondazione Casa Sollievo della Sofferenza. With a strong academic foundation in biology and biomedical lab techniques, Dr. Russo has contributed to peer-reviewed publications in the field of genomics. Her work integrates advanced molecular methods and bioinformatics, aiming to improve diagnostic accuracy in genetic diseases. Passionate and detail-oriented, she combines clinical laboratory skills with innovative research approaches. 🧬🇮🇹📚
Publication Profile
🎓 Education
Dr. Russo earned her Bachelor’s degree in Biomedical Laboratory Techniques from Università degli Studi di Foggia with highest honors (110/110 Lode). She then completed a Master of Science in Biology from Università degli Studi Milano-Bicocca, where she investigated TAB2 gene variants causing multisystem disorders. Currently, she is enrolled in a PhD program in Biosciences and Biotechnology at Università degli Studi di Bari “Aldo Moro,” focusing on multi-OMICs strategies for diagnosing rare Mendelian disorders. Her academic path reflects a consistent focus on molecular biology, medical genetics, and translational research methodologies. 🧫📖🧪
🧪 Experience
Dr. Russo has accumulated valuable experience at the IRCCS Fondazione “Casa Sollievo della Sofferenza,” where she currently works as a Biomedical Laboratory Technician. She began with a curricular internship in 2021, followed by a term contract and later a full-time role. Alongside her job, she undertakes her PhD project involving multi-OMICs data integration for rare genetic disorder diagnosis. Her roles encompass molecular diagnostics, NGS, PCR, and bioinformatics analysis. This combination of clinical practice and research allows her to contribute effectively to the advancement of precision medicine in the genetic field. 🧬🔬🧑🔬
🏅 Awards and Honors
Dr. Federica Russo graduated with highest academic distinction (110/110 Lode) from Università degli Studi di Foggia. While formal award records are not listed, her publications in high-impact genetic research and her selection for a prestigious PhD project at Università degli Studi di Bari reflect her academic excellence and research potential. Her involvement in clinically significant studies, including those on Ehlers-Danlos and Opitz syndromes, highlights her growing recognition in the field of human genetics and bioinformatics. She is considered a promising young scientist within the Italian biomedical research community. 🏆🎖️📘
🔬 Research Focus
Dr. Russo’s research is centered on developing cost-effective diagnostic strategies for rare Mendelian disorders using a multi-OMICs approach. Her work integrates exome, transcriptome, and low-pass genome sequencing data to improve clinical outcomes in medical genetics. She focuses on splicing abnormalities, structural variant detection, and functional genomics. Her notable contributions include studies on TAB2, COL5A1, MID1, and PLOD1 genes, enhancing the clinical interpretation of rare genetic variants. Her aim is to bridge the gap between laboratory findings and patient care through precision diagnostics and translational research. 🧬💡🧫
Publication Top Notes
Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
📅 Published: April 10, 2025
📘 Journal: American Journal of Medical Genetics Part A
🔗 DOI: 10.1002/ajmg.a.64085
Opitz syndrome: Improving Clinical Interpretation of Intronic Variants in MID1 Gene
📅 Published: April 2023
📘 Journal: Pediatric Research
🔗 DOI: 10.1038/s41390-022-02237-y
Loss-of-Function Variants in Exon 4 of TAB2 Cause a Recognizable Multisystem Disorder with Cardiovascular, Facial, Cutaneous, and Musculoskeletal Involvement
📅 Published: November 2021
📘 Journal: Genetics in Medicine
🔗 DOI: 10.1016/j.gim.2021.10.009
Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome
📅 Published: November 29, 2021
📘 Journal: Genes
🔗 DOI: 10.3390/genes12121928