Name: Alessandra
Surname: Ferlini
Place of Birth: Bologna (Italy)
Data of Birth: 24/5/1958
Graduate: Medical Doctor, Neurologist, Medical Geneticist, PhD
Position: Associate Professor in Medical Genetics, University of Ferrara
Affiliation: Dipartimento di Medicina Sperimentale e Diagnostica-Sezione di Genetica Medica- Università di Ferrara, Via Fossato di Mortara, 74, 44100 Ferrara (Italy)
Tel +39 0532 974404
Fax +39 0532 974501
Email fla@unife.it
Alessandra Ferlini , M.D., Ph.D.
Education
1983 Medical Degree cum laude, University of Bologna,
1988 Specialisation in Neurology cum laude, University of Bologna
1993 Specialisation in Medical Genetics cum laude, University of Ferrara
2002 PhD in Genetics, Imperial College of Medicine, University of London, United Kingdom
Positions and Employment
1980-1983 Graduation training University of Bologna , Italy
1983-1988 Specialisation training in Neurology, Universty of Bologna, Italy.
1988-1992 Research fellowship , University of Modena, Italy
1992-1993 Contract Professor in medical genetics, University of Modena, Italy
1993-1994 Research CNR fellowship , ITBA-CNR, Milano, Italy
1994-1999 Senior research assistant, Imperial College of Medicine, Hammersmith Hospital, London UK
1999-2006 Senior Registrar in Medical genetics, Responsible of the molecular genetics laboratory, University of Ferrara, Italy
2006-present Associate Professor in Medical Genetics, University of Ferrara, Italy
Other Experiences and Professional Memberships
1999 – present Member of the American Society of Human Genetics
1996 – present Member of the Società italiana di genetica umana (SIGU)
2002 - present Member, World Muscle Society
1985 EMBO (Germany) fellowship
1986 Boncompagni-Ludovisi (Sweden) Fellowship
1989-1994 UILDM Modena Fellowship
1993-1994 CNR fellowship
1994-1995 Muscle Dystrophy Group fellowship (London, UK)
1995-1999 British Heart Foundation grant fellowship (London, UK)
Past, pending and active grants
British Heart Foundation (UK) Honour contract in Grant 282356 (1995-1999)
European Union (Strep FINGER; 2000-2003)
Telethon, Italy (1993,1996, 1998-2000, 2002-2005, 2005-2008)
European Unit TREAT NMD (NoE 2006-2011, as partner)
Duchenne Parent Project (2005-2008)
ICE (2006-2008)
Expertise areas:
Molecular genetics of hereditary disorders
Applied research on muscular dystrophies amd other neuromuscular disorders
Non-viral gene therapy approaches
Genetic counselling
Genetic testing and related ethical issues
Last five years more relevant publications
1. Altland K, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P. Genetic microheterogeneity of human transthyretin detected by IEF. Electrophoresis. 2007 Jun;28(12):2053-64
2. Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):991-6
3. Rapezzi C, Perugini E, Salvi F, Grigioni F, Riva L, Cooke RM, Ferlini A, Rimessi P, Bacchi-Reggiani L, Ciliberti P, Pastorelli F, Leone O, Bartolomei I, Pinna AD, Arpesella G, Branzi A. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid. 2006 Sep;13(3):143-53.
4. Ferlini A, Ravani A, Venturoli A, Trabanelli C, Masieri MT, Brandi A, Dolcini B, Rimessi P, Gualandi F, Calzolari E. Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories. Prenat Diagn. 2006 Oct;26(10):989-91.
5. Prontera P, Buldrini B, Aiello V, Gruppioni R, Bonfatti A, Venti G, Ferlini A, Sensi A, Calzolari E, Donti E. Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis. Prenat Diagn. 2006 Jun;26(6):571-6
6. Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, Calzolari E, Ferlini A. Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene. Gene. 2006 Jan 23
7. Rimessi P, Spitali P, Ando Y, Mazzaferro V, Pastorelli F, Tassinari CA, Calzolari E, Salvi F, Ferlini A. Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. Liver Int. 2006 Mar;26(2):211-20
8. Vita G, Mazzeo A, Di Leo R, Ferlini A.Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy. Neuromuscul Disord. 2005 Mar;15(3):259-61
9. Stuppia L, Antonucci I, Binni F, Brandi A, Grifone N, Colosimo A, De Santo M, Gatta V, Gelli G, Guida V, Majore S, Calabrese G, Palka C, Ravani A, Rinaldi R, Tiboni GM, Ballone E, Venturoli A, Ferlini A, Torrente I, Grammatico P, Calzolari E, Dallapiccola B. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs. Eur J Hum Genet. 2005 Aug;13(8):959-64.
10. Salvi F, Pastorelli F, Plasmati R, Ferlini A, Grazi GL, Jovine E, Mascalchi M, Tassinari CA. Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. Neurol Sci. 2005 Jun;26(2):140-2
11. Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. Am J Med Genet A. 2005 Jan 7;132A(4):391-394
12. Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalpra L, Genuardi M, Dagna-Bricarelli F, Calzolari E. Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. Prenat Diagn. 2004 Aug;24(8):647-52.
13. Gualandi E, Ravani A, Berto A, Burdo S, Trevisi P, Ferlini A, Martini A, Calzolari E. Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. Acta Otolaryngol Suppl. 2004 May;(552):29-34
14. Cohen N, Rimessi P, Gualandi F, Ferlini A, Muntoni F. In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. Biochemical and Biophysical Research Communications 2004 , 317:1215-1220
15. Bovicelli L, Ghi T, Pilu G, Farina A, Savelli L, Simonazzi G, Calzolari E, Ferlini A, Santini D, Valeri B. Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: Case report. Hum Reprod. 2004 Apr 7
16. Cardazzo B, Bargelloni L, Toffolatti L, Rimessi P, Ferlini A, Patarnello T. Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family. J Mol Evol. 2003;57 Suppl 1:S268-76
17. Salvi F, Scaglione C, Michelucci R, Linke RP, Obici L, Ravani A, Rimessi P, Ferlini A, Meletti S, Cavallaro T, Tassinari CA, Martinelli P Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. Amyloid. 2003 Sep;10(3):185-9
18. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003 Dec;2(12):731-40. Review
19. Gualandi F, Trabanelli C, Rimessi P, Calzolari E, Toffolatti L, Patarnello T, Kunz G, Muntoni F, Ferlini A. Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion. J Med Genet. 2003 Aug;40(8):e100
20. Gualandi F, Rimessi P, Cardazzo B, Toffolatti L, Dunckley MG, Calzolari E, Patarnello T, Muntoni F, Ferlini A. Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality. Gene. 2003 Jun 5;311:25-33
21. Toffolatti L, Cardazzo B, Nobile C, Danieli GA, Gualandi F, Muntoni F, Abbs S, Zanetti P, Angelini C, Ferlini A, Fanin M, Patarnello T. Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics. 2002 Nov;80(5):523-30
22. Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E. Exploring the clinical and epidemiological complexity of GJB2-linked deafness. Am J Med Genet. 2002 Sep 15;112(1):38-45
23. Mascalchi M, Cosottini M, Lolli F, Salvi F, Tessa C, Macucci M, Tosetti M, Plasmati R, Ferlini A, Tassinari CA, Villari N. Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia. Radiology. 2002 May;223(2):371-8
Surname: Ferlini
Place of Birth: Bologna (Italy)
Data of Birth: 24/5/1958
Graduate: Medical Doctor, Neurologist, Medical Geneticist, PhD
Position: Associate Professor in Medical Genetics, University of Ferrara
Affiliation: Dipartimento di Medicina Sperimentale e Diagnostica-Sezione di Genetica Medica- Università di Ferrara, Via Fossato di Mortara, 74, 44100 Ferrara (Italy)
Tel +39 0532 974404
Fax +39 0532 974501
Email fla@unife.it
Alessandra Ferlini , M.D., Ph.D.
Education
1983 Medical Degree cum laude, University of Bologna,
1988 Specialisation in Neurology cum laude, University of Bologna
1993 Specialisation in Medical Genetics cum laude, University of Ferrara
2002 PhD in Genetics, Imperial College of Medicine, University of London, United Kingdom
Positions and Employment
1980-1983 Graduation training University of Bologna , Italy
1983-1988 Specialisation training in Neurology, Universty of Bologna, Italy.
1988-1992 Research fellowship , University of Modena, Italy
1992-1993 Contract Professor in medical genetics, University of Modena, Italy
1993-1994 Research CNR fellowship , ITBA-CNR, Milano, Italy
1994-1999 Senior research assistant, Imperial College of Medicine, Hammersmith Hospital, London UK
1999-2006 Senior Registrar in Medical genetics, Responsible of the molecular genetics laboratory, University of Ferrara, Italy
2006-present Associate Professor in Medical Genetics, University of Ferrara, Italy
Other Experiences and Professional Memberships
1999 – present Member of the American Society of Human Genetics
1996 – present Member of the Società italiana di genetica umana (SIGU)
2002 - present Member, World Muscle Society
1985 EMBO (Germany) fellowship
1986 Boncompagni-Ludovisi (Sweden) Fellowship
1989-1994 UILDM Modena Fellowship
1993-1994 CNR fellowship
1994-1995 Muscle Dystrophy Group fellowship (London, UK)
1995-1999 British Heart Foundation grant fellowship (London, UK)
Past, pending and active grants
British Heart Foundation (UK) Honour contract in Grant 282356 (1995-1999)
European Union (Strep FINGER; 2000-2003)
Telethon, Italy (1993,1996, 1998-2000, 2002-2005, 2005-2008)
European Unit TREAT NMD (NoE 2006-2011, as partner)
Duchenne Parent Project (2005-2008)
ICE (2006-2008)
Expertise areas:
Molecular genetics of hereditary disorders
Applied research on muscular dystrophies amd other neuromuscular disorders
Non-viral gene therapy approaches
Genetic counselling
Genetic testing and related ethical issues
Last five years more relevant publications
1. Altland K, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P. Genetic microheterogeneity of human transthyretin detected by IEF. Electrophoresis. 2007 Jun;28(12):2053-64
2. Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):991-6
3. Rapezzi C, Perugini E, Salvi F, Grigioni F, Riva L, Cooke RM, Ferlini A, Rimessi P, Bacchi-Reggiani L, Ciliberti P, Pastorelli F, Leone O, Bartolomei I, Pinna AD, Arpesella G, Branzi A. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid. 2006 Sep;13(3):143-53.
4. Ferlini A, Ravani A, Venturoli A, Trabanelli C, Masieri MT, Brandi A, Dolcini B, Rimessi P, Gualandi F, Calzolari E. Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories. Prenat Diagn. 2006 Oct;26(10):989-91.
5. Prontera P, Buldrini B, Aiello V, Gruppioni R, Bonfatti A, Venti G, Ferlini A, Sensi A, Calzolari E, Donti E. Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis. Prenat Diagn. 2006 Jun;26(6):571-6
6. Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, Calzolari E, Ferlini A. Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene. Gene. 2006 Jan 23
7. Rimessi P, Spitali P, Ando Y, Mazzaferro V, Pastorelli F, Tassinari CA, Calzolari E, Salvi F, Ferlini A. Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. Liver Int. 2006 Mar;26(2):211-20
8. Vita G, Mazzeo A, Di Leo R, Ferlini A.Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy. Neuromuscul Disord. 2005 Mar;15(3):259-61
9. Stuppia L, Antonucci I, Binni F, Brandi A, Grifone N, Colosimo A, De Santo M, Gatta V, Gelli G, Guida V, Majore S, Calabrese G, Palka C, Ravani A, Rinaldi R, Tiboni GM, Ballone E, Venturoli A, Ferlini A, Torrente I, Grammatico P, Calzolari E, Dallapiccola B. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs. Eur J Hum Genet. 2005 Aug;13(8):959-64.
10. Salvi F, Pastorelli F, Plasmati R, Ferlini A, Grazi GL, Jovine E, Mascalchi M, Tassinari CA. Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. Neurol Sci. 2005 Jun;26(2):140-2
11. Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. Am J Med Genet A. 2005 Jan 7;132A(4):391-394
12. Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalpra L, Genuardi M, Dagna-Bricarelli F, Calzolari E. Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. Prenat Diagn. 2004 Aug;24(8):647-52.
13. Gualandi E, Ravani A, Berto A, Burdo S, Trevisi P, Ferlini A, Martini A, Calzolari E. Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. Acta Otolaryngol Suppl. 2004 May;(552):29-34
14. Cohen N, Rimessi P, Gualandi F, Ferlini A, Muntoni F. In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. Biochemical and Biophysical Research Communications 2004 , 317:1215-1220
15. Bovicelli L, Ghi T, Pilu G, Farina A, Savelli L, Simonazzi G, Calzolari E, Ferlini A, Santini D, Valeri B. Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: Case report. Hum Reprod. 2004 Apr 7
16. Cardazzo B, Bargelloni L, Toffolatti L, Rimessi P, Ferlini A, Patarnello T. Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family. J Mol Evol. 2003;57 Suppl 1:S268-76
17. Salvi F, Scaglione C, Michelucci R, Linke RP, Obici L, Ravani A, Rimessi P, Ferlini A, Meletti S, Cavallaro T, Tassinari CA, Martinelli P Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. Amyloid. 2003 Sep;10(3):185-9
18. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003 Dec;2(12):731-40. Review
19. Gualandi F, Trabanelli C, Rimessi P, Calzolari E, Toffolatti L, Patarnello T, Kunz G, Muntoni F, Ferlini A. Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion. J Med Genet. 2003 Aug;40(8):e100
20. Gualandi F, Rimessi P, Cardazzo B, Toffolatti L, Dunckley MG, Calzolari E, Patarnello T, Muntoni F, Ferlini A. Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality. Gene. 2003 Jun 5;311:25-33
21. Toffolatti L, Cardazzo B, Nobile C, Danieli GA, Gualandi F, Muntoni F, Abbs S, Zanetti P, Angelini C, Ferlini A, Fanin M, Patarnello T. Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics. 2002 Nov;80(5):523-30
22. Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E. Exploring the clinical and epidemiological complexity of GJB2-linked deafness. Am J Med Genet. 2002 Sep 15;112(1):38-45
23. Mascalchi M, Cosottini M, Lolli F, Salvi F, Tessa C, Macucci M, Tosetti M, Plasmati R, Ferlini A, Tassinari CA, Villari N. Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia. Radiology. 2002 May;223(2):371-8
