Curriculum Vitae s134

Curriculum Vitae

PERSONAL DATA: Last name Alfano First name: Giovanna Date &Place of Birth: July 3 1974, Lettere (Na, Italy) Citizenship: Italian Languages: Italian, English e-mail: [email protected] [email protected] [email protected] Mobile phone: (+44)-(0)-7401275047; (+44)-(0)-7899311824 Present work address: Institute of Ophthalmology 11-43 Bath Street EC1V 9EL London, UK EDUCATION: 1988-1993- High school: Liceo classico “Plinio Seniore” C/mare di stabia (Na)

1998-2000 Undergraduate student at “Istituto Nazionale dei Tumori di Napoli”, Department of Experimental Oncology,

1993-2000 Degree in Biology Sciences, final mark: 110 cum laudae/110, (maximum score 110) University of Naples, “Federico II”, Italy. Thesis title: (Ruolo del recettore della vitronectina di tipo avb5 sulla motilità delle cellule tumorali indotta da urochinasi) “Role of the αvβ5 vitronectin receptor on cancer cells motility induced by urokinase”

2002-2006 PhD in Medical Genetics. SUN Second University of Naples.Thesis title (Studio del gene Vax2 un fattore di trascrizione che gioca un ruolo chiave nello sviluppo della parte ventrale dell’occhio.) “Study of Vax2 gene: a transcription factor that plays a key role in the ventral eye development” Tutor Dr. Sandro Banfi-Coordinator Prof. Vincenzo Nigro

September 1998-May 2000 Experimental thesis work at “Istituto Nazionale dei Tumori di Napoli”, Department of Experimental Oncology”

July 2000- September 2002 Fellow at Telethon Institute of Genetics and Medicine (TIGEM ) In the Dr. Sandro Banfi’s laboratory (email [email protected])

October 2002- Dicember 2006 PhD student. Work laboratory at Telethon Institute of Genetics and Medicine (TIGEM ). In the Dr. Sandro Banfi’s laboratory.

January 2007- November 2008 Post Doc fellow at Telethon Institute of Genetics and Medicine (TIGEM ). In the Dr. Sandro Banfi’s laboratory.

Dicember 2008 – current date Research associate position at University College London (UCL) In the Prof. Shomi S. Bhattacharya laboratory (email: [email protected])

TECHNICAL SKILLS Expertise Eukaryotic cell cultures Immunocytochemistry Regular and confocal microscopy (LSM700 Zeiss microscope) DNA, RNA extractions PCR, RT-PCR, Real Time PCR Cloning techniques Transfections DNA sequencing, mutation screening RNA in situ hybridization assays

Working with mouse as animal model: Maintenance of murine lines Perfusion of pregnant, newborn and adult mice Collecting of mouse embryos (E9.5-E18.5) Disection of fetal and adult mouse retina Collecting of fetal and adult mouse organs Embedding of organs in OCT and paraplast Preparation of cryosections and paraplast sections from mouse organs with specific expertise in retinal section preparation Immunohistochemistry and hystological stainings Basic skills Linkage analysis Southern Blotting, Northern Blotting and Western Blotting Luciferase assays Mouse retina primary cultures

COMPUTER SKILLS Good knowledge of Windows and MacOS and their applicative software such as Word, Excel, Power-point Adobe Photo Shop. Good knowledge of the most common bioinformatics databases.

PUBLICATIONS

New insights into the biological role of VAX2 in the human, in health and disease

Giovanna Alfano, Amna Z. Shah, Naushin H. Waseem, Andrew R. Webster and Shomi S. Bhattacharya PLOSONE, manuscript under revision

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A Anna Rose, Panagiotis Sergouniotis, Giovanna Alfano, Nadia Muspratt-Tucker, Stephanie Barton, Anthony Moore, Graeme Black, Shomi Bhattacharya, and Andrew Webster Eye (Lond). 2015 June 26

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT Rose AM, Shah AZ, Alfano G, Bujakowska KM, Barker AF, Robertson JL, Rahman S, Sánchez LV, Diaz-Corrales FJ, Chakarova CF, Krishna A, Bhattacharya SS. J Mol Genet Med. 2013 Aug; 7(2)

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein Doumanov JA, Zeitz C, Dominguez Gimenez P, Audo I, Krishna A, Alfano G, Diaz ML, Moskova-Doumanova V, Lancelot ME, Sahel JA, Nandrot EF, Bhattacharya SS. Int J Mol Sci. 2013 Jul 22; 14(7): 15121-40 Expression of PRPF31 and TFPT: regulation in health and retinal disease. Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS. Hum Mol Genet. 2012 Jun 20

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A. BMC Med Genet. 2012 Mar 28;13(1):20

The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina. Meola N, Pizzo M, Alfano G, Surace EM, Banfi S. RNA. 2012 Jan;18(1):111-23.

Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye Alfano G., Ivan Conte, Tiziana Caramico, Raffaella Avellino, Benedetta Arno’, Maria Teresa Pizzo, Naoyuki Tanimoto, Susanne C. Beck, Gesine Huber, Pascal Dolle’, Mathias Seeliger and Sandro Banfi Development. 2011 Jan;138(2):261-71

Identification and expression analysis of novel Jakmip1 transcripts Costa V, Conte I, Ziviello C, Casamassimi A, Alfano G , Banfi S, Ciccodicola A. Gene. 2007 Jul 14

Natural antisense transcripts (NATs) associated with genes involved in eye development. Alfano G, Vitiello C, Caccioppoli C, Caramico T, Carola A, Szego MJ, McInnes RR, Auricchio A, Banfi S. Hum Mol Genet. 2005 Apr 1;14 (7):913-23

Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. Conte I, Lestingi M, den Hollander A, Alfano G, Ziviello C, Pugliese M, Circolo D, Caccioppoli C, Ciccodicola A, Banfi S. Eur J Hum Genet. 2003 Feb; 11(2):155-62.

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa Conte I, Lestingi M, den Hollander A, Miano MG, Alfano G, Circolo D, Pugliese M, Testa F, Simonelli F, Rinaldi E, Baiget M, Banfi S, Ciccodicola A. Gene. 2002 Sep 4;297(1-2):33-8.

Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Barbieri AM, Broccoli V, Bovolenta P, Alfano G, Marchitiello A, Mocchetti C, Crippa L, Bulfone A, Marigo V, Ballabio A, Banfi S. Development. 2002 Feb;129(3):805-13.

ABSTRACT AT INTERNATIONAL CONFERENCES

New insights into the biological role of VAX2 in human, in health and disease

Giovanna Alfano, Amna Z. Shah, Naushin H. Waseem, Andrew R. Webster and Shomi S. Bhattacharya

The American Society of Human Genetics 64th Annual Meeting-San Diego, California October 18-22

TOPORS, a centrosomal and ciliary protein implicated in retinitis pigmentosa, associates with the actin cytoskeleton Amna Z. Shah, Barbara Czub, Przemyslaw M. Kruczek, Giovanna Alfano, Christina F. Chakarova and Shomi S. Bhattacharya The American Society of Human Genetics 64th Annual Meeting-San Diego, California October 18-22 ITM2B implicated in familial dementias and retinal dystrophy associates with ciliary-centrosomal protein TOPORS. B. Czub, A. Z. Shah, P. Kruczek, G. Alfano, C. Chakarova, S. S. Bhattacharya

Understanding the role of EYS by identification and characterisation of its retinal interacting partners P. M. Kruczek, G. Alfano, B. Czub, A. Z. Shah, A. C. Zelhof, S. S. Bhattacharya

Identification of Interacting Protein Partners of TOPORS in the Retina Barbara Czub, Amna Z. Shah, Giovanna Alfano, Lourdes Valdés Sánchez, Christina Chakarova, Shomi S. Bhattacharya ARVO 2013 Annual Meeting, May 05 - 09, 2013, Seattle, Washington.

Vax2 regulates retinoic acid distribution and cone opsin expression in the mouse eye G. Alfano, T. Caramico, P. Dollè and S. Banfi

The American Society of Human Genetics 58th Annual Meeting Philadelphia, Pennsylvania November 11-15 2008

Identification and characterization of Natural Antisense Transcripts (NATs) Associated to genes involved in eye development Alfano G, Vitiello C, Caccioppoli C, Caramico T, Carola A, Szego MJ, McInnes RR, Auricchio A, Banfi S

The American Society of Human Genetics 54th Annual Meeting Toronto, Canada October 26-30 2004 Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibers and eye coloboma

S. Banfi, A.M. Barbieri, V. Broccoli, P. Bovolenta, G. Alfano, A. Marchitiello, A. Ballabio

The American Society of Human Genetics 51st Annual Meeting-San Diego, California October 12-16 2001

London, 01-07-2015 Giovanna Alfano