Elena Rossi, Associate Professor, P.I.
Marta Di Biagio, specializzanda in Medical Genetics
Giorgia Pedrani, postgraduate student in Biotechnologies
Giula Scianaro, postgraduate student in Experimental and Applied Biology
ER’s laboratory has a great experience in Cytogenetic and Molecular Cytogenetic applied in prenatal and postnatal settings and in different research areas:
- screening of patients with mental retardation/multiple congenital anomalies syndromes, analysis of solid tumors so as to identify molecular alterations prognostically and pathogenetically informative;
- screening of infertile men to define X-linked genetic factors involved in male sterility;
- application of array-CGH in Sry-negative XX sex reversal dogs in order to clarify the network of genes driving sex determination in mammals.
Another line of research focuses on the analysis of epigenetic regulatory pathways in diffuse fibrotic lung disorders and rare pleural malignancies. The aim is to establish the role of candidate dysregulated miRNAs in these lung diseases through the use of in situ hybridization analysis on paraffin embedded human and rat lung tissue samples and on mesenchimal cells.
More recently, our lab has being involved in the identification of rare genomic variants in subjects affected by neurodevelopmental disorders, intellectual disability, epilepsy and autism, so as to define their biological role and their clinical implications. We oriented our research in two main directions:
1) identification of genes included in regions with rare CNVs, which may be susceptible to “second hits”;
2) validation of homozygosity mapping for the identification of regions likely to contain the causative variant in recessive conditions.
Our project is an example of the close connection between genetic diagnostic and research lab. Additionally, it demonstrates the importance of this link so as to deepen the understanding in pathogenic mechanisms of disorders.
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum. Borghesi, A., Plumari, M., Rossi, E., Viganò, C., Cerbo, RM, Valente, E.M., Gana, S. American Journal of Medical Genetics, Part A, 2022, 188(2), pp. 635–641 doi: 10.1002/ajmg.a.62547. Epub 2021 Oct 29. PMID: 34713961
miRNAs Potentially Involved in Post Lung Transplant-Obliterative Bronchiolitis: The Role of miR-21-5p. Bozzini S, Pandolfi L, Rossi E, Inghilleri S, Zorzetto M, Ferrario G, Di Carlo S, Politano G, De Silvestri A, Frangipane V, Porzio M, Kessler R, Calabrese F, Meloni F, Morbini P. Cells. 2021 Mar 20;10(3):688. doi: 10.3390/cells10030688.PMID: 33804639
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome. Gana S, Plumari M, Rossi E, Saracino A, Iorio M, Zanaboni MP, Orcesi S, Valente EM. Am J Med Genet A. 2020 Nov;182(11):2722-2726. doi: 10.1002/ajmg.a.61832. Epub 2020 Sep 5. PMID: 32888391
Identification of miRNAs Potentially Involved in Bronchiolitis Obliterans Syndrome: A Computational Study. Di Carlo S, Rossi E, Politano G, Inghilleri S, Morbini P, Calabrese F, Benso A, Savino A, Cova E, Zampieri D, Meloni F (2016). PLOS ONE, vol. 11, ISSN: 1932-6203, doi:10.1371/journal.pone.0161771
A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous Region. Rossi E, Radi O, De Lorenzi L, Iannuzzi A, Camerino G, Zuffardi O, Parma P. Sex Dev. 2015;9(3):155-61. doi: 10.1159/000435871. Epub 2015 Jul 16.