Omics Sciences
Genomics for the diagnosis of human pathologies
The scientific interest of the group is focused on the study of different genetic human pathologies. The unit applies a genomic approach to investigate the genetics of several inherited diseases, such as heart, kidney, lung, neurological disorders, inherited cancers as well as cases without a defined clinical diagnosis. More recently the team has set whole genome sequencing for characterization of both cancer and normal tissues by identification of somatic genome variability and signatures.
Research activity
Group research is focused on molecular methods; in particular, massive parallel sequencing for whole genome, exome or targeted resequencing are applied. Collection and interpretation of the genetic data are relevant for the correlation to the clinical features and phenotype stratification, contributing to the precision medicine.
Chimienti R, Torchio S, Siracusano G, Zamarian V, Monaco L, Lombardo MT, Pellegrini S, Manenti F, Cuozzo F, Rossi G, Carrera P, Sordi V, Broccoli V, Bonfanti R, Casari G, Frontino G, Piemonti L. A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome. Diabetologia. 2025 Jan;68(1):128-151. PMID: 39520565.
Orsi G, Carconi C, Ghiorzo P, Carrera P, Pastorino L, Presi S, Chiaravalli M, Barbieri E, Giordano G, Sciallero S, Puccini A, Salvatore L, Cortesi L, Macchini M, Natalicchio MI, Allavena E, Pirrone C, Archibugi L, Dalmasso B, Bruno W, Tortora G, Landriscina M, Capurso G, Cascinu S, Falconi M, Reni M. Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients. Eur J Cancer. 2024 Sep;208:114226. PMID: 39029294.
Barzaghi F, Visconti C, Pipitone GB, Bondesan S, Molli G, Giannelli S, Sartirana C, Lampasona V, Bazzigaluppi E, Brigatti C, Gervais A, Bastard P, Tassan Din C, Molinari C, Piemonti L, Casanova JL, Carrera P, Casari G, Aiuti A. Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti-Type I Interferon Antibodies. J Infect Dis. 2025 Feb 4;231(1):e206-e212. PMID:38976510.
Rimini M, Presi S, Pipitone GB, Russo Raucci A, Ratti F, Della Corte A, Pedica F, Vanella G, Tonon G, Burgio V, Vitiello F, Rossari F, Amadeo E, Maria Giulia C, Pecciarini L, Arcidiacono PG, Falcinelli F, Cascinu S, De Cobelli F, Aldrighetti L, Patricelli MG, Carrera P, Casadei-Gardini A. Germline testing and genetic counseling in biliary tract cancer: an operative proposal to improve the state of art. Expert Rev Gastroenterol Hepatol. 2024 Apr-May;18(4-5):141-146 PMID: 38584510.
Borgese N, Guillén-Samander A, Colombo SF, Mancassola G, Di Berardino F, Zanetti D, Carrera P. Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss. Biomedicines. 2023 Sep 28;11(10):2657. PMID: 37893031
Zambon AA, Ghezzi D, Baldoli C, Cutillo G, Fontana K, Sofia V, Patricelli MG,Nasca A, Vinci S, Spiga I, Lamantea E, Fanelli GF, Sora MGN, Rovelli R,Poloniato A, Carrera P, Filippi M, Barera G. Expanding the spectrum of neonatal-onset AIFM1-associated disorders. Ann Clin Transl Neurol. 2023 Aug 29. doi:10.1002/acn3.51876. Epub ahead of print. PMID: 37644805.
Quarantani G, Sorgente A, Alfano M, Pipitone GB, Boeri L, Pozzi E, Belladelli F, Pederzoli F, Ferrara AM, Montorsi F, Moles A, Carrera P, Salonia A, Casari G. Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort. PLoS One. 2023 Aug 4;18(8):e0288336. PMID: 37540677.
Privitera F, Piccini F, Recalcati MP, Presi S, Mazzola S, Carrera P. APC Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature. Genes (Basel). 2023 Jul 23;14(7):1505. doi: 10.3390/genes14071505. PMID: 37510409.
Saboori-Darabi S, Carrera P, Akbari A, Amiri-Yekta A, Almadani N, Battista Pipitone G, Shahrokh-Tehraninejad E, Lotfi M, Mazaheri M, Totonchi M. A heterozygous missense variant in DLX3 leads to uterine leiomyomas and pregnancy losses in a consanguineous Iranian family. Gene. 2023 May 20;865:147292. PMID: 36854347.
Carrera P, Marzinotto I, Bonfanti R, Massimino L, Calzavara S, Favellato Μ, Jofra T, De Giglio V, Bonura C, Stabilini A, Favalli V, Bondesan S, Cicalese MP, Laurenzi A, Caretto A, Frontino G, Rigamonti A, Molinari C, Scavini M, Sandullo F, Zapparoli E, Caridi N, Bonfiglio S, Castorani V, Ungaro F, Petrelli A, Barera G, Aiuti A, Bosi E, Battaglia M, Piemonti L, Lampasona V, Fousteri G. Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset. Diabetologia. 2023 Apr;66(4):695-708; PMID: 36692510.
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A. Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy. Eur J Neurol. 2023 Feb;30(2):511-526. PMID: 36260368; PMCID: PMC10099703.
Bianco L, Arrigo A, Antropoli A, Saladino A, Spiga I, Patricelli MG, Bandello F, Carrera P, Battaglia Parodi M. PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations. Ophthalmol Retina. 2023 May;7(5):450-461. PMID:36563963.
Riva N, Pozzi L, Russo T, Pipitone GB, Schito P, Domi T, Agosta F, Quattrini A, Carrera P, Filippi M. NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis. Front Neurosci. 2022 Apr 14;16:833051. PMID: 35495032.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, .., Carrera P, et al. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Sci Immunol. 2021 Aug 19;6(62):eabl4348. PMID: 34413140.
