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Francesco Gavazzi, MD, PhD
2b 7 60Department: Neurology
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Contact information
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3615 Civic Center Blvd
Philadelphia, PA 19104
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Philadelphia, PA 19104
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Education:
21 7 MD 15 (Medicine) c
49 Universita' degli Studi di Milano, Milano, Italy, 2012.
21 8 PhD 32 (Biomedical and Translational Sciences) c
4b Universita' degli Studi di Brescia, Brescia, Italy, 2022.
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21 7 MD 15 (Medicine) c
49 Universita' degli Studi di Milano, Milano, Italy, 2012.
21 8 PhD 32 (Biomedical and Translational Sciences) c
4b Universita' degli Studi di Brescia, Brescia, Italy, 2022.
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Post-Graduate Training
24 76 Resident in Pediatric Neurosychiatry, Universita' degli Studi di Brescia, Brescia, Italy, 2013-2018.
24 7a Postdoctoral Fellow, Child Neurology, Children's Hospital of Philadelphia, Philadelphia, USA, 2018-2021.
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Permanent link24 76 Resident in Pediatric Neurosychiatry, Universita' degli Studi di Brescia, Brescia, Italy, 2013-2018.
24 7a Postdoctoral Fellow, Child Neurology, Children's Hospital of Philadelphia, Philadelphia, USA, 2018-2021.
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2d2 Costanza Varesio, Davide Politano, Laura Adang, Elena Ballante, Roberta Battini, Enrico Bertini, Renato Borgatti, Valentina De Giorgis, Annamaria Del Boca, Francesca Dragoni, Elisa Fazzi, Jessica Galli, Jessica Garau, Francesco Gavazzi, Alice Gardani, Roberta La Piana, Isabella Moroni, Francesco Nicita, Anna Pichiecchio, Antonella Pini, Federica Ricci, Stefano Sartori, Davide Tonduti, Adeline Vanderver, Simona Orcesi: Clinical characterization of a multicentre international cohort of Aicardi-Goutières syndrome patients homozygous for the RNASEH2B:p.Ala177Thr variant: early clinical markers of disease severity. Pediatric Neurology July 2025.
13c Peter Hong, Francesco Gavazzi,Anjana Sevagamoorthy, Isha Deshpande, Elizabeth Ballance, Jamie Bradford, Jessica Costagliola, Elizabeth Cross, Stacy Cusack, Allan M. Glanzman, Ann Harrington, Tracy Kornafel, Emma McKenzie, Samuel R. Pierce, Sarah Woidill, Adeline Vanderver a8 : Gross Motor Function and Adaptive Abilities in TUBB4A-Related Leukodystrophy United Leukodystrophy Foundation 2025 Meeting June 2025.
206 Miriam Lerner, Francesco Gavazzi, Sarah Woidill, Russel D'Aiello, Elizabeth Ballance, Jamie Bradford, Lindsay Busarello, Jessica Costagliola, Elizabeth Cross, Stacy Cusack, Michelle Fitzgerald, Ann Tokay Harrington, Tracy Kornafe, Emma McKenzie, Adeline Vanderver: Functional abilities in a POLR3-related leukodystrophy cohort: a step towards clinical trial readiness. United Leukodystrophy Foundation (ULF) 2025 Scientific Conference June 2025.
dc Giulia S Porcari, Miriam Lerner, Sarah Woidill, Lara Trentino, Camila Bergueiro Martins De Oliveria, Anjana Segavamoorthy, Francesco Gavazzi, Johanna Schmidt, Adeline Vanderver b8 : Developmental Trajectories in GCJ2-related Hypomyelinating Leukodystrophy. United Leukodystrophy Foundation (ULF) 2025 Scientific Conference June 2025.
135 Gavazzi F, Martin A, Sevagamoorthy A, Vaia Y, Vincent A, Woidill S, D'Aiello R, DeMauro SB, Lorch SA, Vanderver A, Adang LA: Experiences and hope in caregivers of children with Aicardi Goutières Syndrome (AGS). J Child Neurol May 2025.
17d Gavazzi F, Yu E, Tashnim Z, Woidill S, Sevagamoorthy A, Arnold K, Ammann-Schnell L, Groeschel S, Krägeloh-Mann I, Breitling V, Schlotawa L, Ahrens-Nicklas R, Adang LA: Exploration into lived experiences of Multiple Sulfatase Deficiency (MSD) affected individuals and their families. J Child Neurol May 2025.
109 Gavazzi F, Kornafel T, Balance E, Pierce SR, Joung J, Gallison K, et al: Assessment of Gross Motor Function in Alexander Disease (AxD). American Academy of Neurology Annual Meeting April 2025.
2c 2a1 Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA, Vanderver AL.: The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy. Mol Genet Metab. 144(3), Mar 2025.
197 Mutua S, Sevagamoorthy A, Woidill S, Orchard PJ, Gavazzi F, MacFarland SP, Russo P, Vanderver A, Adang LA. Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan.: Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. Mol Genet Metab 144(1), Jan 2025.
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Selected Publications
2b4 Emma R. Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Mark Ramos, Francesco Gavazzi, Stephanie Keller, Keith Van Haren, Ali Fatemi, Florian Eichler, Joshua Bonkowsky, Jamie Fraser, Lisa Emrick, Omar Sherbini, Ashley Hackett, Jeilo Gauna, Dandre Amos, Jordan Goodman, Amena Smith Fine, Amanda Nagy, Seungil Lee, Nicole Page, Johanna Schmidt, Amy Pizzino, Kayla Muirhead, Mariko Bennett, Amy Waldman, Justine Shults, Laura Adang, Robert Grundmeier, Adeline Vanderve: Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study. Annals of the Child Neurology Society July 2025.2d2 Costanza Varesio, Davide Politano, Laura Adang, Elena Ballante, Roberta Battini, Enrico Bertini, Renato Borgatti, Valentina De Giorgis, Annamaria Del Boca, Francesca Dragoni, Elisa Fazzi, Jessica Galli, Jessica Garau, Francesco Gavazzi, Alice Gardani, Roberta La Piana, Isabella Moroni, Francesco Nicita, Anna Pichiecchio, Antonella Pini, Federica Ricci, Stefano Sartori, Davide Tonduti, Adeline Vanderver, Simona Orcesi: Clinical characterization of a multicentre international cohort of Aicardi-Goutières syndrome patients homozygous for the RNASEH2B:p.Ala177Thr variant: early clinical markers of disease severity. Pediatric Neurology July 2025.
13c Peter Hong, Francesco Gavazzi,Anjana Sevagamoorthy, Isha Deshpande, Elizabeth Ballance, Jamie Bradford, Jessica Costagliola, Elizabeth Cross, Stacy Cusack, Allan M. Glanzman, Ann Harrington, Tracy Kornafel, Emma McKenzie, Samuel R. Pierce, Sarah Woidill, Adeline Vanderver a8 : Gross Motor Function and Adaptive Abilities in TUBB4A-Related Leukodystrophy United Leukodystrophy Foundation 2025 Meeting June 2025.
206 Miriam Lerner, Francesco Gavazzi, Sarah Woidill, Russel D'Aiello, Elizabeth Ballance, Jamie Bradford, Lindsay Busarello, Jessica Costagliola, Elizabeth Cross, Stacy Cusack, Michelle Fitzgerald, Ann Tokay Harrington, Tracy Kornafe, Emma McKenzie, Adeline Vanderver: Functional abilities in a POLR3-related leukodystrophy cohort: a step towards clinical trial readiness. United Leukodystrophy Foundation (ULF) 2025 Scientific Conference June 2025.
dc Giulia S Porcari, Miriam Lerner, Sarah Woidill, Lara Trentino, Camila Bergueiro Martins De Oliveria, Anjana Segavamoorthy, Francesco Gavazzi, Johanna Schmidt, Adeline Vanderver b8 : Developmental Trajectories in GCJ2-related Hypomyelinating Leukodystrophy. United Leukodystrophy Foundation (ULF) 2025 Scientific Conference June 2025.
135 Gavazzi F, Martin A, Sevagamoorthy A, Vaia Y, Vincent A, Woidill S, D'Aiello R, DeMauro SB, Lorch SA, Vanderver A, Adang LA: Experiences and hope in caregivers of children with Aicardi Goutières Syndrome (AGS). J Child Neurol May 2025.
17d Gavazzi F, Yu E, Tashnim Z, Woidill S, Sevagamoorthy A, Arnold K, Ammann-Schnell L, Groeschel S, Krägeloh-Mann I, Breitling V, Schlotawa L, Ahrens-Nicklas R, Adang LA: Exploration into lived experiences of Multiple Sulfatase Deficiency (MSD) affected individuals and their families. J Child Neurol May 2025.
109 Gavazzi F, Kornafel T, Balance E, Pierce SR, Joung J, Gallison K, et al: Assessment of Gross Motor Function in Alexander Disease (AxD). American Academy of Neurology Annual Meeting April 2025.
2c 2a1 Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA, Vanderver AL.: The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy. Mol Genet Metab. 144(3), Mar 2025.
197 Mutua S, Sevagamoorthy A, Woidill S, Orchard PJ, Gavazzi F, MacFarland SP, Russo P, Vanderver A, Adang LA. Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan.: Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. Mol Genet Metab 144(1), Jan 2025.
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