Bolino Alessandra Professore AssociatoMedicineBIOS-10/A - Biologia cellulare e applicata

Alessandra Bolino graduated in Biological Sciences in Genoa and obtained a PhD in Human Genetics from the University of Turin. After a research period in France, in Paris and Lyon, as a doctoral student, she completed a post-doctorate at the University of Oxford. She returned to Italy thanks to the Telethon career program: from 2001 to 2011, she was a researcher at the Telethon Dulbecco Institute at the San Raffaele Hospital in Milan, where she continues to work as the head of the Human Inherited Neuropathies Unit. Since 1996, she has been dealing with inherited peripheral neuropathies, Charcot-Marie-Tooth diseases, for which she has identified three responsible genes, subsequently studying their role in the biology of the peripheral nerve. Her research interest is strongly translational, being focused on the preclinical validation of therapeutic strategies for the benefit of some rare forms of inherited peripheral neuropathies. Since 2015, she has played an active role in the Peripheral Nerve Society (PNS Society, USA), first as a board member and then as Chair of several strategic committees. Since 2024, she has been appointed President-Elect of the Peripheral Nerve Society, of which she is President from 2025.

 

Unique identifiers

ORCID ID: 0000-0002-8980-4878

SCOPUS ID: 6701539642

Researcher ID: O-2933-2013

 

Education

1998   PhD in Human Genetics, University of Turin, Turin, Italy.

1991   Degree in Biological Sciences 110/110 cum laude – University of Genoa, Genoa, Italy.

1987   Classical Studies, 60/60, Genoa, Italy.

 

Professional experience

2025 – to date  Coordinator of the International PhD Program in Molecular Medicine, Faculty of Medicine, Vita-Salute San Raffaele University, Milan.

2023 – 2025     Vice-coordinator of the International PhD Program in Molecular Medicine, Faculty of Medicine, Vita-Salute San Raffaele University, Milan.

2023– to date   Associate Professor in Biology, SSD BIO13 Vita-Salute San Raffaele University, Milan, Italy

2010                Visiting Professor at Yale University, New Haven, USA. Host Prof. Pietro De Camilli

2007– to date   Group Leader, Human Inherited Neuropathies Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

2006 – 2012     Associate Telethon Scientist, San Raffaele Scientific Institute, Milan, Italy.

2001 – 2006     Assistant Telethon Scientist, San Raffaele Scientific Institute, Milan, Italy.

1998 – 2001     Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, U.K. Post-doctoral training. Supervisor Prof. Anthony P. Monaco

1996                TIGEM, Istituto Telethon di Genetica e Medicina, - Milan, Italy –Visiting scientist. Host Prof. Andrea Ballabio.

1995 – 1996     International Agency for Research on Cancer, Lyon, France – PhD student

1993 – 1997     PhD student in Human Genetics, University of Turin, Turin, Italy.

1992                Istituto Scientifico G. Gaslini, Genoa, Italy. Biologist.

 

Awards and honors

2006 – 2012     Fondazione Telethon. Associate Telethon Scientist, Career award

2005                The International Peripheral Nerve Society-USA, Fellowship

2001 – 2005     Fondazione Telethon. Assistant Telethon Scientist, Career award

2000                Regione Liguria, Genoa, Italy. Award for scientific research

1999 – 2000     Oxford University, Oxford UK – Contract.

1998                Fondazione Telethon – Fellowship

1997                Consiglio Nazionale delle Ricerche, CNR – Fellowship (renounce)

1996                Association Française pour la Recherche sur le Cancer, Paris, Francia- Fellowship

1995                Communauté de Travail des Alpes Occidentales, COTRAO, Francia – Fellowship

1993                Associazione Italiana per la Ricerca sul Cancro, AIRC - Fellowship

 

Professional activities

Participation in boards and committees of Scientific Societies

2025 – to date              President, Peripheral Nerve Society, USA

2024 –  2025                President Elect, Peripheral Nerve Society, USA

 

2022 – to date              Member of the AFM Scientific Council (Association Française contre les Myopathies), France.

2022 – to date              Chair of the Training grant initiative committee, Peripheral Nerve Society, USA

2021 – to date              Member of the Executive Committee of the National Virtual Rare Diseases institute.

2020 – to date              Chair of the Scientific Advisory Board of the CMT4B3 Research Foundation, USA.

2020 – 2022                 Chair of the Educational Committee, Peripheral Nerve

      Society, USA

2018 – 2020                 Vice-Chair of the Educational Committee, Peripheral Nerve

      Society, USA

2016 – 2022                 Board member of the Italian Peripheral Nerve Association

2015 – 2019                 Board Member of the Peripheral Nerve Society, USA

 

Teaching activities

2019 – 2026            International Master “Peripheral nervous system disorders”. University of Milan & IRCCS “Carlo Besta” Neurological Institute Milan, Italy

2017                      National Academic Qualification as Full Professor in Experimental Biology 05/F1.

2013                      National Academic Qualification as Associate Professor in: Medical Genetics 06/A1; Genetics 05/I1, Experimental Biology 05/F1.

2016 – 2022           University of Bergamo, Faculty of Engeneering. BIO/11- Cellular and Molecular Biology. Adjunct Professor.

2015 – 2016           University of Bergamo, Faculty of Engeneering. BIO/11- Cellular and Molecular Biology. Tutor.

2010 – 2015           Vita-Salute San Raffaele University, SSD MED/26 Neurology: “Molecular Mechanisms of myelination and repair”- Faculty of Medicine. Adjunct Professor.

2008 – 2012           Vita-Salute San Raffaele University Faculty of Psychological Sciences, SSD BIO/13 Experimental Biology. Tutor.

 

Reviewer

Human Molecular Genetics, Journal of Neurochemistry, Neuromuscular Disorders, Journal of Neuroscience, PLoS Genetics, Journal of Cell Biology, Autophagy, Journal of Clinical Investigation, Brain, American Journal of Human Genetics, EMBO J, Nature communications.

ELA - Association Européenne contre les Leucodystrophies

AFM, Association Française contre les Myopathies, FWO-Foundation for Scientific Research-Belgium, ANR- Agence Nationale pour la Recherche, France, MRC London, UK.

 

Editiorial Board

Editorial Board of the Journal of Peripheral Nervous System.

 

Meeting organization

2021             ICNMD 17th International Congress on Neuromuscular Diseases, Brussels July 2022. A. Bolino member of the Scientific Committee.

2019            Peripheral Nerve Society meeting, PNS, Genova, 22-26 June 2019. A Bolino,   Co-Chair of the Scientific Committee.

2018            Peripheral Nerve Society meeting, PNS, Baltimore, USA 20-25 July 2018. A.    Bolino member of the Scientific Committee.

2017             Seventh Annual Meeting ASNP, Italian French joint meeting, Bergamo, 20-22 April. A Bolino member of the Scientific Board.

2016            Charcot-Marie-Tooth and related neuropathies consortium Meeting, Venice,

                    September 8-10. A. Bolino member of the Scientific Board

2015            A. Bolino organizer of a symposium “Schwann cell Biology and disease”

                    Euroglia meeting, Bilbao July 15-18.

2013            Biennial Meeting of the Peripheral Nerve Society, Saint Malo, France.

June-July. A. Bolino co-chair of the Scientific Board.

2013            PhD Course on “Cell polarity”, Vita-Salute San Raffaele University, PhD

  Program in Molecular Medicine, Molecular and Cellular Biology

2011                      PhD Course on “Membrane trafficking in health and disease”, Vita-Salute San Raffaele University, PhD Program in Molecular Medicine, Molecular and Cellular Biology

 

Institutional duties

2022 – 2024           Member of the Scientific Board of INSPE, Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy.

2021 – 2023           Vice-Chair of the Board of the Curriculum in Neuroscience and Experimental Neurology, PhD School in Molecular Medicine, Vita-Salute San Raffaele University, Milan, Italy

2013 – 2015           Member of the “International Postdoctoral Program Committee- European Union Seventh Framework Programme”, Marie Curie Co-funding of Regional, National and International Programmes (COFUND) through the INVEST project, Vita-Salute San Raffaele University, Milan, Italy.

2011 – 2018           Member of the Board of the Curriculum in Cell Biology and pathophysiology, PhD School in Molecular Medicine, Vita-Salute San Raffaele University, Milan, Italy.

 

Selected publications (best 15)

“Dysregulation of mTORC1-dependent myelin synthesis and actomyosin function underlies defective myelin longitudinal growth in CMT4B1 neuropathy”.

Guerrero-Valero M, Grandi F, Alberizzi V, Di Guardo R, Chicanne G, Sawade L, Bianchi F, Del Carro U, De Curtis I, Pareyson D, Parman Y, Schenone A, Haucke V, Payrastre B, Bolino A.

Proc Natl Acad Sci U S A. 2021 Mar 9;118 (10), e2009469118. doi: 10.1073/pnas.2009469118.

“Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth”.

Sawade L, Grandi F, Mignanelli M, Patiño-López G, Klinkert K, Langa Vives F, Di Guardo R, Echard A, Bolino A*, Haucke V*. * co-corresponding authors.

Nature Communications, 2020, Jun 5;11(1):2835. doi: 10.1038/s41467-020-16696-6.

“A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).”

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Annals Neurology. 2019 Jul;86(1):55-67.

“Expanding the spectrum of genes responsible for hereditary motor neuropathies.”

Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A.

Journal of Neurology, Neurosurgery &Psychiatry. 2019 Oct;90(10):1171-1179.

"Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold."

Noseda R, Guerrero-Valero M, Alberizzi V, Previtali SC, Sherman DL, Palmisano M, Huganir RL, Nave KA, Cuenda A, Feltri ML, Brophy PJ, Bolino A.

PLoS Biology. 2016 Apr 12;14(4):e1002440. doi: 10.1371/journal.pbio.1002440.

“Niacin-mediated Tace activation enhancement ameliorates CMT neuropathies with

focal hypermyelination”.

A. Bolino*, F. Piguet, V.Alberizzi, M. Pellegatta, C. Rivellini, M. Guerrero-Valero, R. Noseda, C. Brombin, A. Noni, P. D'Adamo, C. Taveggia, S. C. Previtali.

*corresponding author. EMBO Molecular Medicine, 2016 Dec 1;8(12):1438-1454.

“Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies”

Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A.

PLoS Genetics 2011 Oct;7(10): e1002319. Epub 2011 Oct 20.

“Histopathological features may contribute to unravel the pathogenesis of rare CMT neuropathies”

S. Benedetti, S. C. Previtali, S. Coviello, M. Scarlato, F. Cerri, E. Di Pierri,  L. Piantoni, I. Spiga, R. Fazio, N. Riva, M. G. Natali Sora, P. Dacci, M. C. Malaguti, E. Munerati, L. M. E. Grimaldi, M.G. Marrosu, M. De Pellegrin, M. Ferrari, G. Comi, A. Quattrini, A. Bolino.

Archives Neurology, 67:1498-505 (2010).

“Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in schwann cell myelination”.

Bolis A, Coviello S, Visigalli I, Taveggia C, Bachi A, Chishti AH, Hanada T, Quattrini A, Previtali SC, Biffi A, Bolino A.

Journal of Neuroscience 29: 8858-70 (2009).

“Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes CMT4B1 neuropathy with myelin outfoldings”.

A. Bolis, S. Coviello, S. Bussini, G. Dina, C. Pardini, S.C. Previtali, M. Malaguti, P. Morana, U. Del Carro, M.L. Feltri, A. Quattrini, L. Wrabetz, A. Bolino.

Journal of Neuroscience, 25: 8567-8577 (2005).

“Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis”.

Bolino A*, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, Amadio S, Del Carro U, Mruk DD, Feltri ML, Cheng CY, Quattrini A, Wrabetz L.

Journal of Cell Biology, 167: 711-21 (2004). * Corresponding author.

“Mutations in MTMR13, a new pseudo-phosphatase homologue of MTMR2 and Sbf1, are responsible for an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with juvenile-onset glaucoma.”

Azzedine H,* Bolino A,* Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. * Equally contributed.

American Journal of Human Genetics, 72: 1141-1153 (2003).

“Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve”

Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RHM, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A.

Human Molecular Genetics, 12: 1713-1723 (2003).

“Charcot-Marie-Tooth type 4 B is caused by mutations in the gene encoding the myotubularin related protein 2, MTMR2, on chromosome 11q22.”

A. Bolino, M. Muglia, F.L. Conforti, E. LeGuern, A.M. Salih, D.M. Georgiou, R.K. Christodoulou, I. Hausmanowa-Petrusewicz, P. Mandich, A. Schenone, A. Gambardella, F. Bono, A. Quattrone, M. Devoto, A.P. Monaco.

Nature Genetics, 25: 17-19 (2000).

"A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10".

S.Lyonnet*, A. Bolino*, A.Pelet, L.Abel, C.M.Fekete, M.L.Briard, V.Mok Sui, H.Kaariainen, G.Martucciello, M.Lerone, A.Puliti, Y.Luo, J.Weissenbach, M.Devoto, A.Munnich, G.Romeo.

Nature Genetics, 4: 346-350 (1993). * equally contributed.