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Francesco Gavazzi, MD, PhD
44Research Associate of Neurology
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Senior Principal Scientist, Children's Hospital of Philadelphia
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Department: 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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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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Certifications
28 55 Child Neuropsychiatry, University of Brescia, Brescia, Italy, 2018.
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Permanent link28 55 Child Neuropsychiatry, University of Brescia, Brescia, Italy, 2018.
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17a Gavazzi F, Woidill S, Sevagamoorthy A, Jawad AF, D'Aiello R, Bradford J, Lerner M, Hong P, White A, Tashnim Z, Cusack SV, Glanzman AM, Harrington A, Waldman AT, Vanderver A, Adang LA. : Design of a Pediatric Low Motor Function Item Battery in leukodystrophies. Mol Genet Metab 147(4): 109866, April 2026.
153 Gavazzi F, Pizzino A, Bally JF, et al. TUBB4A-Related Neurologic Disorders. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A: TUBB4A-Related Neurologic Disorders. GeneReviews® Seattle (WA): University of Washington, Seattle (eds.). March 2026.
185 Sevagamoorthy A*, Gavazzi F*, Tashnim Z, Hong P, Vaia Y, Lee-Kirsch MA, Eleftheriou D, Beerepoot S, Hully M, Berry Kravis EM, Ventola P, Raspa M, Wheeler A, DeMauro SB, Glanzman AM, Townsend E, Duong T, Cusack S, Harrington AT, Pierce S, Fitzgerald M, Fazzi E, Galli J, Orcesi S, Tonduti D, Wassmer E, Cordova D, Adang LA, Butts C, Vanderver A. f2 *indicates shared first authorship: A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS). Mol Genet Metab. 147(3): 109765, March 2026.
1b4 Gavazzi F, Patel V, Erler JA, Charsar B, Vaia Y, Sevagamoorthy A, Vincent A, Woidill S, Wassmer E, Houlden H, Garcia-Cazorla A, Tonduti D, Wolf NI, Van der Knaap M, Bernard G, Adang LA, Vanderver A.: Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective. Pediatr Neurol.(173), 156-165, December 2025.
180 Gavazzi F, Pierce SR, Smith V, Yang E, Skorup J, Pucci K, Kotes E, Glanzman AM, Cusack SV, Levy T, Dubbs H, Wiener E, Woidill S, Vithayathil J, Jawad A, Thakur N, Adang LA: Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN). Mol Genet Metab 146(3): 109253, November 2025.
190 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-Affected Individuals and Their Families. J Child Neurol. 40(10): 852-861, November 2025.
24f Varesio C, Politano D, Adang L, Ballante E, Battini R, Bertini E, Borgatti R, De Giorgis V, Del Boca A, Dragoni F, Fazzi E, Galli J, Garau J, Gavazzi F, Gardani A, La Piana R, Moroni I, Nicita F, Pichiecchio A, Pini A, Ricci F, Sartori S, Tonduti D, Vanderver A, Orcesi S.: Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity. Pediatr Neurol(171), 92-99, October 2025.
148 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 40(7): 543-554, August 2025.
13a van Voorst RJ, Schoenmakers DH, van Beelen I, Gavazzi F, Chapleau A, Vanderver A, Bernard G, Krägeloh-Mann I, van der Knaap MS.: The impact of vanishing white matter on unaffected family members. Orphanet J Rare Dis 20(1): 456, August 2025.
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Selected Publications
18e Pizzino A, Arnold K, Wiener E, Muirhead K, Schmidt J, Dominguez-Gonzalez CA, Banglorewala P, Fraser JL, Ruzhnikov M, Cohen JS, Sherbini O, Logan R, Gavazzi F, Sevagamoorthy A, Vincent A, D'Aiello R, Vanderver A. : Rigorous genetic diagnosis review in natural history studies. Orphanet J Rare Dis 28(21 (1)): 182, April 2026.17a Gavazzi F, Woidill S, Sevagamoorthy A, Jawad AF, D'Aiello R, Bradford J, Lerner M, Hong P, White A, Tashnim Z, Cusack SV, Glanzman AM, Harrington A, Waldman AT, Vanderver A, Adang LA. : Design of a Pediatric Low Motor Function Item Battery in leukodystrophies. Mol Genet Metab 147(4): 109866, April 2026.
153 Gavazzi F, Pizzino A, Bally JF, et al. TUBB4A-Related Neurologic Disorders. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A: TUBB4A-Related Neurologic Disorders. GeneReviews® Seattle (WA): University of Washington, Seattle (eds.). March 2026.
185 Sevagamoorthy A*, Gavazzi F*, Tashnim Z, Hong P, Vaia Y, Lee-Kirsch MA, Eleftheriou D, Beerepoot S, Hully M, Berry Kravis EM, Ventola P, Raspa M, Wheeler A, DeMauro SB, Glanzman AM, Townsend E, Duong T, Cusack S, Harrington AT, Pierce S, Fitzgerald M, Fazzi E, Galli J, Orcesi S, Tonduti D, Wassmer E, Cordova D, Adang LA, Butts C, Vanderver A. f2 *indicates shared first authorship: A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS). Mol Genet Metab. 147(3): 109765, March 2026.
1b4 Gavazzi F, Patel V, Erler JA, Charsar B, Vaia Y, Sevagamoorthy A, Vincent A, Woidill S, Wassmer E, Houlden H, Garcia-Cazorla A, Tonduti D, Wolf NI, Van der Knaap M, Bernard G, Adang LA, Vanderver A.: Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective. Pediatr Neurol.(173), 156-165, December 2025.
180 Gavazzi F, Pierce SR, Smith V, Yang E, Skorup J, Pucci K, Kotes E, Glanzman AM, Cusack SV, Levy T, Dubbs H, Wiener E, Woidill S, Vithayathil J, Jawad A, Thakur N, Adang LA: Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN). Mol Genet Metab 146(3): 109253, November 2025.
190 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-Affected Individuals and Their Families. J Child Neurol. 40(10): 852-861, November 2025.
24f Varesio C, Politano D, Adang L, Ballante E, Battini R, Bertini E, Borgatti R, De Giorgis V, Del Boca A, Dragoni F, Fazzi E, Galli J, Garau J, Gavazzi F, Gardani A, La Piana R, Moroni I, Nicita F, Pichiecchio A, Pini A, Ricci F, Sartori S, Tonduti D, Vanderver A, Orcesi S.: Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity. Pediatr Neurol(171), 92-99, October 2025.
148 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 40(7): 543-554, August 2025.
13a van Voorst RJ, Schoenmakers DH, van Beelen I, Gavazzi F, Chapleau A, Vanderver A, Bernard G, Krägeloh-Mann I, van der Knaap MS.: The impact of vanishing white matter on unaffected family members. Orphanet J Rare Dis 20(1): 456, August 2025.
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