Links condivisione social

Errichiello Lab

Errichiello lab

Edoardo Errichiello, Associate Professor


Phone: +39 0382 987733

Lab members

Mauro Lecca, PhD student (2nd year, Translational Medicine, University of Pavia)

Claudia Di Bella, Master's degree student (Medical and Pharmaceutical Biotechnologies, University of Pavia)

Andrea Oldani, Master's degree student (Medical and Pharmaceutical Biotechnologies, University of Pavia)

Luisa Margherita Masciulli, Master's degree student (Molecular Biology and Genetics, University of Pavia)

The Errichiello lab has a consolidated experience in cytogenomics, molecular genetics, omics sciences (mainly genomics and transcriptomics) and next generation sequencing (NGS) technologies, bioinformatic data analysis, genotype-phenotype correlation, and functional validation of novel disease genes and genetic variants of uncertain significance (VUS) identified in patients affected by rare genetic diseases
Our research work largely relies on the enthusiasm and generosity of the patients and families (and their associations) who volunteer to be a part of our path.
The main goal of our daily work is to translate basic science knowledge into better options for the diagnosis, clinical management and finally treatment of rare disease patients.
A key step towards this achievement is to understand the fundamental mechanisms of disease, including the pathogenic role of atypical splice-site, synonymous, and non-coding (e.g., deep intronic) variants, as well as the contribution of digenic and oligogenic inheritance.
Our main areas of research include (but are not limited to) congenital eye diseases, especially congenital cataract, neurodevelopmental disorders, hematological and immunological diseases, disorders of sexual development, and rare tumors.
During the years, the lab has established solid collaborations with other research units of the Department of Molecular Medicine, as well as with national and international clinical research centers.

Liu S, Aldinger KA, Cheng CV, Kiyama T, Dave M, McNamara HK, Zhao W, Stafford JM, Descostes N, Lee P, Caraffi SG, Ivanovski I, Errichiello E, Zweier C, Zuffardi O, Schneider M, Papavasiliou AS, Perry MS, Humberson J, Cho MT, Weber A, Swale A, Badea TC, Mao CA, Garavelli L, Dobyns WB, Reinberg D. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Mol Cell. 2021;81(22):4663-4676.e8. doi: 10.1016/j.molcel.2021.09.020. PMID: 34637754; PMCID: PMC8604784.

Errichiello E, Dardiotis E, Mannino F, Paloneva J, Mattina T, Zuffardi O. Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis. Front Immunol. 2019;10:1685. doi: 10.3389/fimmu.2019.01685. PMID: 31396216; PMCID: PMC6664049.

Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. De novo unbalanced translocations have a complex history/aetiology. Hum Genet. 2018;137(10):817-829. doi: 10.1007/s00439-018-1941-9. PMID: 30276538.

Errichiello E, Mustafa N, Vetro A, Notarangelo LD, de Jonge H, Rinaldi B, Vergani D, Giglio SR, Morbini P, Zuffardi O. SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. J Pathol. 2017;243(1):9-15. doi: 10.1002/path.4926. PMID: 28608987; PMCID: PMC5601212.

Renton AE, Pliner HA, Provenzano C, Evoli A, Ricciardi R, Nalls MA, Marangi G, Abramzon Y, Arepalli S, Chong S, Hernandez DG, Johnson JO, Bartoccioni E, Scuderi F, Maestri M, Gibbs JR, Errichiello E, Chiò A, Restagno G, Sabatelli M, Macek M, Scholz SW, Corse A, Chaudhry V, Benatar M, Barohn RJ, McVey A, Pasnoor M, Dimachkie MM, Rowin J, Kissel J, Freimer M, Kaminski HJ, Sanders DB, Lipscomb B, Massey JM, Chopra M, Howard JF Jr, Koopman WJ, Nicolle MW, Pascuzzi RM, Pestronk A, Wulf C, Florence J, Blackmore D, Soloway A, Siddiqi Z, Muppidi S, Wolfe G, Richman D, Mezei MM, Jiwa T, Oger J, Drachman DB, Traynor BJ. A genome-wide association study of myasthenia gravis. JAMA Neurol. 2015;72(4):396-404. doi: 10.1001/jamaneurol.2014.4103. PMID: 25643325; PMCID: PMC4856525.