Present affiliation:
Dipartimento di Scienze Mediche e Chirurgiche (DIMEC)
Università di Bologna
U.O. Genetica Medica
Policlinico S. Orsola-Malpighi, pad 11
via Massarenti 9
Bologna 40138
Details and Contacts:
Born in Bologna, Italy
Italian nationality
E-mail: emanuele.panza@unibo.it
EDUCATION
PhD in Human Genetics
University of Torino, Italy
2002-2006
Master Degree in Medical Biotechnology
University of Bologna, Italy
1995-2000
APPOINTMENTS and FELLOWSHIPS
Assistant Professor, Medical Genetics Unit,
Department of Medical and Surgical Sciences,
University of Bologna, Italy
2016-present
Research Associate, Department of
Human Genetics, Mario Capecchi Laboratory
University of Utah, Salt Lake City, Utah, USA
2013-2016
HHMI Research Associate, Department of
Human Genetics, Mario Capecchi Laboratory
University of Utah, Salt Lake City, Utah, USA
2009-2013
Fellowship from the “Marco Polo Scientific exchange program” from the University of Bologna, Italy to the University of Utah, USA
2008
Telethon Fellowship: “Hereditary Spastic Paraplegias” GRANT N°GGP06209. University of Bologna, Italy
In this grant I was directly responsible of the work package “Identification of the gene causing the complex Spastic paraplegia form SPG9”
2006-2008
Research Associate at contract, University of Bologna, Italy
2004
Member of the Probi Viri Council, Italian National Association of Biotechnologists (ANBI)
2002-2005
Visiting Fellow, Institute of Human Genetics, GSF‐National Research Center for Environment and Health, Neuherberg, Germany
2002
Telethon Fellowship: “MYH9 related disorders” GRANT N°E.1313. G.Gaslini Institute, Genova, Italy
In this grant I was directly responsible of the work package “Generation of an in vitro model to test MYH9 mutations”
2001-2003
Fellowship from the Interuniversity Consortium for Biotechnology (CIB, Consorzio Interuniversitario Biotecnologie, Trieste, Italy): G.Gaslini Institute, Genova, Italy
2000
GRANTS
“Understading Hereditary Spastic Paraplegias: in vivo models to study SPG9”
American Spastic Paraplegia Foundation, April 2017-March2019.
SCIENTIFIC PUBLICATIONS
Panza E, Ozenberger BB, Straessler K, Barrott JJ, Li L, Xie M, Boulet A, Titen S, Mason C, Lazar AJ, Ding L, Capecchi MR, Jones KB. “The Clear Cell Sarcoma Functional Genomic Landscape.”
J Clin Invest. 2021 Aug 2;131(15):e146301. doi: 10.1172/JCI146301.
Panza E, Barbieri S, Spagnuolo R. “La tecnologia del Gene Editing nella didattica esperienziale per studenti delle scuole secondarie di secondo grado”.
IUL Research, Vol. 1, num. 2, Dicembre 2020.
Toydemir MR, Panza E, Longhurst M, South S, Rope A. “Seizures and cardiomyopathy in a patient with Pallister-Killian syndrome due to hexasomy 12p mosaicism”.
Molecular Syndromology 2020 Jul;11(3):125-129. doi: 10.1159/000507598. Epub 2020 Apr 10.
Magini P, Marco-Marin C, Escamilla JM, Martinelli D, Dionisi Vici C, Faravelli F, Forzano F, Seri M, Rubio V, Panza E.
“P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9”.
Ann Clin Transl Neurol. 2019 Aug;6(8):1533-1540.
Panza E, Martinelli D, Magini P, Dionisi Vici C, Seri M.
“Hereditary spastic paraplegia is a common phenotypic finding in ARG1 Deficiency, P5CS deficiency and HHH syndrome: three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism”.
Frontiers in Neurology 2019 Feb 22;10:131.
Dugan SL, Panza E, Openshaw A, Botto LD, Camacho JA, Toydemir RM.
“Delineation of the 9q31 Microdeletion Syndrome: Genomic Microarray Characterization of Two Patients with Overlapping Deletions”.
American Journal Of Medical Genetics Part A. 2018.
Panza E, Escamilla JM, Marco-Marín C, Gougeard N, De Michele G, Brescia Morra V, Liguori R, Salviati L, Donati MA, Ravazzolo R, Davies S, Hurst J, Bordo D, Rubio V, Seri M.
“ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism”.
Brain. 2016 Jan;139(Pt 1):e3.
Knowles C, Lindberg G, Panza E, De Giorgio R.
“New perspectives in the diagnosis and management of adult enteric neuropathies.”
Nat Rev Gastroenterol Hepatol. 2013 Apr;10(4):206-18.
Panza E, Knowles CH, Graziano C, Thapar N, Burns AJ, Seri M, Stanghellini V, De Giorgio R.
“Genetics of human enteric neuropathies.”
Prog Neurobiol. 2012 Jan 14;96(2):176-189.
Pecci A, Buozzi V, Panza E, Barozzi S, Tira ME, Seri M, and Balduini CL.
"Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells on type I collagen."
Thromb Haemost. 2011 Aug 11;106(4).
Pecci A, Panza E, De Rocco D, Nuria Pujol-Moix, Girotto G, Podda L, Paparo C, Bozzi V, Pastore A, Balduini CL, Seri M, Savoia A.
“MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild phenotype”.
Eur J Haematol. 2010 Apr;84(4):291-7.
Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A.
“MYH9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder”.
Thromb Haemost. 2010 Mar 31;103(4):826-32.
Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Boris Bradac G, Pinessi L, Cavalieri S, Grosso E.
“A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without LMNB1 mutations”.
Eur J Neurol. 2010 Apr;17(4):541-9
Ferrero Gb, Baldassarre G, Panza E, Valenzise M, Pippucci T, Mussa A, Pepe E, Seri M, Silengo MC.
“A heritable cause of cleft lip and palate - Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis”.
Eur J Pediatr. 2010 Feb;169(2):223-8.
Graziano C, Carone S, Panza E, Marino F, Romeo G, Pession A, Seri M.
“Association of hereditary thrombocythemia and terminal limb defects in a family with a mutation in the thrombopoietin gene”.
Blood. 2009 Aug 20;114(8):1655-7.
Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M.
“Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel splice site mutation in the SPG11 gene and further evidence for genetic heterogeneity”.
Eur J Neurol. 2009 Jan; 16(1):121-6.
Panza E, Marini M, Pecci A, Giacopelli F, Bozzi V, Seri M, Balduini C, Ravazzolo R.
“Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines”.
Pathogenetics 2008 Dec 1; 1(1):5.
Panza E, Pippucci T, Cusano R, Lo Nigro C, Pradella L, Contardi S, Rouleau GA, Stevanin G, Ravazzolo R, Liguori R, Montagna P, Romeo G, Seri M.
“A refined physical map of the SPG9 locus on 10q23.3-24.2: screening of candidate genes”.
Eur J Neurol. 2008 May; 15(5):520-4.
Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Molinas FC, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A.
“The position of NMMHC-IIA mutations predicts the natural history of MYH9-related disease”.
Hum Mutat. 2008 Mar;29(3):409-17.
Deglincerti A, De Giorgio R, Cefle K, Devoto M, Pippucci T, Castegnaro G, Panza E, Barbara G, Cogliandro RF, Mungan Z, Palanduz S, Corinaldesi R, Romeo G, Seri M, Stanghellini V.
“A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-24”.
Eur J Hum Genet. 2007 Aug;15(8):889-97.
Panza E, Gimelli G, Passalacqua M, Cohen A, Gimelli S, Giglio S, Ghezzi C, Sparatore B, Heye B, Zuffardi O, Rugarli E, Meitinger T, Romeo G, Ravazzolo R, Seri M.
“The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies”.
Int J Mol Med 2007 Mar; 19(3):429-35.
Longo L, Panza E, Schena F, Seri M, Devoto M, Romeo G, Tonini G.P. and Perri P.
“Identification of two novel regions at 2p and 12p for predisposition to familial neuroblastoma”.
Hum Hered 2007 Feb 22; 63(3-4):205-211.
Gruppioni E, Conti B, Altimari A, Gabusi E, Panza E, Grazi GL, Di Pinna A, De Ruvo N, Fiorentino M, Grigioni W, D’Errico A.
“A modified fluorescent PCR method allowing molecular diagnosis of post transplantation lymphoproliferative disorders on routine tissue sections”.
Diagn Mol Pathol 2005; 14:170–176.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Soriano JR, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A.
“MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness”.
Medicine (Baltimore) 2003 May; 82(3):203-15.
Emanuele Panza,
Bologna 15/09/2021
