Alfredo Brusco
Alfredo Brusco
affiliation: Università di Torino
research area(s): Genetics And Genomics, Molecular Biology
Course: Biomedical Sciences and Human Oncology
University/Istitution: Università di Torino
1991, University of Torino, graduated in Biological Sciences with first class honours
1996, University of Torino, “Professional certificate for Biologists”
1997, University of Torino, Philosophical Doctorate in Human Genetics

Scientific profile
91-96 I studied the genetic instability and polymorphisms of the IGHC region, describing new gene duplication/deletions, and triplications. I characterized a breakpoint in an IGHC deletion, and demonstrated the presence of a G4 gene duplication in 50% of Caucasian chromosomes. I molecularly defined some allo-isoallotypes (G2m(n+/n-) and G4m). Ph.D. thesis entitled: “Genetic instability and allotypic polymorphisms of the immunoglobulin heavy chain constant genes (IGHC). I attended the “7th course of the European school of medical genetics” and the “GASLINI-IARC course in cancer genetics” (International School of Paediatric Sciences, Genova, Italy & International Agency for Research on Cancer, Lion, France).
93-96 Short visits to the “Istitut fur Immunologie” (Basel, Switzerland), and the “Guy' s Hospital” (London).
97-2000 As assistant researcher I worked in the Medical Genetics field: Tuberous Sclerosis (characterization of large deletions in TSC1 and TSC2 genes), Congenital Bilateral Absence of Vas Deferens (CBAVD) (identification of point mutations in the CFTR gene), mutation scanning in Atassia Telangiectasia patients.
97-2000 Teaching activity in the course: “Molecular Biology for Biomedical technicians” (University of Torino).
2000-now Biologist at the Genetics Unit, Az. Osp. San Giovanni Battista - Torino. Reasearch projects on hereditary ataxia and neurodegenerative disorders. I worked on mutation analysis of spinocerebellar ataxia genes, and ataxia telangiectasia. I set-up several collaborative studies with Istituto Neurologico “C. Besta”-Milano, (screening by Repeat Expansion Detection of orphan SCA familial patients- FXTAS among sporadic males with SCA, identification of the SCA28 locus and gene), and with UCLA-Los Angeles, USA (Prof. R. Gatti- Characterization of ATM gene mutations). I am responsible for several genetics tests on hereditary ataxias and leukodystrophy, and on setting up novel tests at the Medical Genetics Unit.
Presently I am also involved in the array CGH diagnostics of multiple congenital anomalies.
From 2007 to 2010 I have been principal investigator for a Telethon multicenter project aimed at studying SCA28 pathogenetic pathways and develop a knock-in SCA28 mouse. I am responsible for a project founded by the European Leukodytrophy Association aimed at identifying the molecular basis of a autosomal dominant adult-onset leukodystrophy. I am a partner in a Telethon project aimed to study the basis of LMNB1 duplication associated with leukodystrophy.
I am also responsible for diagnostic activity in the field of hereditary ataxias, autosomal dominant leukodystrophy, and detection of genomic deletions/duplications in mental retardation associated with dismorfic features by array-CGH.
Cavalieri S, Funaro A, Pappi P, Migone N, Gatti RA, Brusco A. Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. Ann Hum Genet 2008 72,10–18 (nel 2006 2.727 Genetics & heredity 59/131).
Porcedda P, Turinetto V, Brusco A, Cavalieri S, Lantelme E, Ragona R, De Marchi M, Amoroso A, Gregari D, Giachino C. A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry part A 2008, 73(6):508-16.
Cagnoli C, Brussino A, Di Gregorio E, Caroppo P, Stola S, Dragone E, Ferrone M, Padovan S, Migone N, Orsi L, Brusco A. Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy. J Neurology 2008, 255(7):1079-80. doi: 10.1007/s00415-008-0772-3
Cagnoli C, Brussino A, Sbaiz L, Di Gregorio E, Atzori C, Caroppo P, Orsi L, Migone N, Buffa C, Imperiale D, Brusco A. A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia. Movement Disorders 2008, 30;23(10):1468-71.
54. Quarello P, Garelli E, Brusco A, Carando A, Pappi P, Barberis M, Coletti V, Campagnoli MF, Dianzani I, Ramenghi U. Multiplex ligation-dependent probe amplification (MLPA) enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency. Haematologica. 2008 Nov;93(11):1748-50.
Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A. A novel family with Lamin B1 duplication associated with adult-onset leukoencephalopathy. Journal of Neurol Neurosurg Psychiatry 2009 Feb;80(2):237-40.
56. Brussino A, D’Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A. Mutations in the lamin B1 gene are not present in multiple sclerosis. Eur J Neurol 2009, 16:544-546.
Porcedda P, Turinetto V, Orlando L, Lantelme E, Brusco A, De Marchi M, Amoroso A, Ricardi U, Gregori D, Giachino C. Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes. Radiother Oncol 2009 Jul;92(1):133-7.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I Ramenghi U. Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations. Hematologica 2010, Feb;95(2):206-13.
Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Bradac GB, Ponessi L, Cavalieri S, Grosso E, Migone N, Brusco A. A family with Autosomal Dominant Leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. Eur J Neurol 2010, 17: 541–549.
Di Gregorio E, Orsi L, Godani M, Vaula G, Jensen S, Salmon E, Ferrari G, Squadrone S, Abete MC, Cagnoli C, Brussino A, Brusco A. Two italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15. The cerebellum 2010 Mar;9(1):115-23
DiBella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Pievani P, DiDonato S, Langer T, Muzi-Falconi M, Taroni F. Mutations in the mitochondrial protease AFG3L2 cause dominant hereditary ataxia SCA28 and reveal an essential role for protection against neurodegeneration in the human cerebellum. Nature Genetics, 2010, Apr;42(4):313-21.
Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F. Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease. BMC Neuroscience 2010, 11:55-63.
Brussino A, Graziano C, Giobbe D, Ferrone M, Dragone E, Arduino C, Lodi R, Tonon C, Gabellino AS, Rinaldi R, Miccoli S, Grosso E, Bellati MC, Orsi L, Migone N, Brusco A. Spinocerebellar ataxia type 12 identified in two italian families may mimic sporadic ataxia. Movement Disorders, 2010, Vol. 25, No. 9, 2010, pp. 1269–1291.
Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, and BruscoA. Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias. Human Mutation 2010, 31, 10: 1117-1124.
St. Hilaire C, Ziegler SG, Martello BAT, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman BARJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum R, Robert Kleta R, Gahl WA, Boehm M. Arterial calcifications in adults are caused by NT5E mutations. N Engl J Med. 2011 Feb 3;364(5):432-442
No projects are available to students for the current accademic year.