Adeline Vanderver, M.D.
Professor of Neurology
Department: Neurology
Contact information
Adeline Vanderver, MD
Program Director of the Leukodystrophy Center of Excellence
Children’s Hospital of Philadelphia
Jacob A. Kamens Endowed Chair in Neurological Disorders and Translational NeuroTherapeutics
3615 Civic Center Blvd.
516H ARC
Philadelphia, PA 19104
Program Director of the Leukodystrophy Center of Excellence
Children’s Hospital of Philadelphia
Jacob A. Kamens Endowed Chair in Neurological Disorders and Translational NeuroTherapeutics
3615 Civic Center Blvd.
516H ARC
Philadelphia, PA 19104
Office: 215-590-1719
Fax: 215-590-1234
Lab: 267 514 5753
Fax: 215-590-1234
Lab: 267 514 5753
Graduate Group Affiliations
Publications
Education
CM (Candidature en Médecine)
Facultés Universitaires Notre Dame de la Paix Namur, Belgium , 1994.
MD
Universite Catholique de Louvain Brussels, Belgium , 1998.
CM (Candidature en Médecine)
Facultés Universitaires Notre Dame de la Paix Namur, Belgium , 1994.
MD
Universite Catholique de Louvain Brussels, Belgium , 1998.
Post-Graduate Training
Transitional Year Residency, Frankford Hospital, Temple University, 1998-1999.
Pediatric Residency (PL-1 and PL-2), A.I. duPont Hospital for Children, Thomas Jefferson University , 1999-2001.
Child Neurology Residency, Children’s National Medical Center , 2001-2004.
Biochemical Genetics Fellowship, National Human Genome Research Institute/National Institutes of Health , 2006-2008.
Transitional Year Residency, Frankford Hospital, Temple University, 1998-1999.
Pediatric Residency (PL-1 and PL-2), A.I. duPont Hospital for Children, Thomas Jefferson University , 1999-2001.
Child Neurology Residency, Children’s National Medical Center , 2001-2004.
Biochemical Genetics Fellowship, National Human Genome Research Institute/National Institutes of Health , 2006-2008.
Certifications
Educational Commission for Foreign Graduates, 1999.
American Board of Pediatrics, 2004.
American Board of Neurology and Psychiatry with Special Expertise in Child Neurology, 2005.
American Board of Medical Genetics, Biochemical Genetics, 2013.
Permanent linkEducational Commission for Foreign Graduates, 1999.
American Board of Pediatrics, 2004.
American Board of Neurology and Psychiatry with Special Expertise in Child Neurology, 2005.
American Board of Medical Genetics, Biochemical Genetics, 2013.
Selected Publications
Hou Z, Gagne A, Cai J, Maguire JA, Pavani G, Yang W, Takanohashi A, Vanderver A, Sase S. : Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A. Stem Cell Res. 2026 Jul 18;95:104063. doi: 10.1016/j.scr.2026.104063. Online ahead of print. PMID: 42501571 July 2026.Sevagamoorthy A, Woidill S, Sudilovsky G, Kelley K, Vaia Y, Gavazzi F, Schmidt JL, Pizzino A, D'Aiello R, Uebergang E, Bruschi F, Mirchi A, Abe-Hatano C, Sartorelli J, Nicita F, Cunningham C, Tonduti D, Bertini E, Bernard G, Inoue K, Wolf NI, Adang LA, Shults J, Vanderver A.: Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD). Mol Genet Metab. 2026 Jul;148(3):110154. doi: 10.1016/j.ymgme.2026.110154. Epub 2026 May 15. PMID: 42176404 May 2026.
Riley TR 4th, Kotzin JJ, Park DJ, Banerjee S, Takanohashi A, Vanderver A; Penn Medicine Biobank; Baker JF, Finck AV, Miner JJ.: Adult-onset STING-associated vasculopathy. J Hum Immun 2: e20250235, May 2026.
Sevagamoorthy A, Woidill S, Sudilovsky G, Kelley K, Vaia Y, Gavazzi F, Schmidt JL, Pizzino A, D'Aiello R, Uebergang E, Bruschi F, Mirchi A, Abe-Hatano C, Sartorelli J, Nicita F, Cunningham C, Tonduti D, Bertini E, Bernard G, Inoue K, Wolf NI, Adang LA, Shults J, Vanderver A.: Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD). Mol Genet Metab 148: 110154, May 2026.
Sase S, Hacker JL, Napit PR, Bhagavatula A, Woidill S, D'Alessandro A, Jeffries MA, Almad A, Takanohashi A, Padiath QS, Grinspan JB, Marsh ED, Vanderver A.: Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy. Mol Ther 34: 2923-2943, May 2026.
Karandikar S, Sevagamoorthy A, Zimmerman D, D'Aiello R 3rd, Dorfschmidt L, Cyr K, Jung B, Levitis E, Adang LA, Arnold K, Bennett ML, Charsar BA, Dominguez Gonzalez CA, Gavazzi F, Hong P, Orthmann-Murphy JL, Pham ST, Kelley K, Lerner M, Shults J, Thakur N, Vossough A, Waldman AT, White A, Whitehead MT, Emrick L, Fraser J, Van Haren K, Keller S, Fatemi A, Eichler F, Bonkowsky JL; Global Leukodystrophy Initiative Clinical Trials Network Workgroup; Seidlitz J, Alexander-Bloch AF, Vanderver A.: Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies. medRxiv [Preprint]. 2026 May 25:2026.05.22.26353512. doi: 10.64898/2026.05.22.26353512. PMID: 42245025 May 2026.
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 21: 182, Apr 2026.
Rius R, Blakes AJM, Chen Y, De Jonghe J, Lecoquierre F, Dawes R, Cogne B, Kim HC, Alvi JR, Amblard F, Ansari M, Arlt A, Austin-Tse C, Baer S, Balasubramanian M, Balton EV, Barcia G, Beleza-Meireles A, Bernstein JA, Beygo J, Blanc P, Bramswig NC, Braun F, Buchzik D, Calame DG, Campbell J, Coutton C, Cunningham CA, Dargie N, Depienne C, Dipple KM, Dieux A, Dixit A, Dreyer L, Du H, El Chehadeh S, Field M, Ewans LJ, Geiger V, Gibbs RA, Glass I, Grunewald O, Gueguen P, Haack TB, Hadj Abdallah H, Harbuz R, Helbig I, Horvath J, Hustinx A, Isidor B, Jacquemont ML, Jamie F, Jeanne M, Kessler R, Klinkhammer H, Korenke GC, Kotzaeridou U, Krawitz P, Laurie S, Leventer RJ, Levy RJ, Lupski JR, Marijon P, McGinnis KE, Mendez R, Messaoud O, Nava C, Nizard M, O'Donnell-Luria A, O'Leary MC, Olivieri S, Parida A, Pehlivan D, Prentice AJ, Posey JE, Reuter CM, Satre V, Schluth-Bolard C, Smol T, Sultan T, Taylor J, Thauvin-Robinet C, Thevenon J, Uebergang E, Ueberberg S, Vincent-Delorme C, Wassmer E, Westwood E, Wheeler MT, Gulec EY, Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N.: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nat Genet April 2026.
Calame DG, Wiener EK, Gavazzi F, Sevagamoorthy A, Pizzino A, Arnold K, Dominguez Gonzalez C, Jammihal T, Bennett M, Adang L, Woidill S, Whitehead MT, Vossough A, D'Aiello R, Takanohashi A, Lele J, Simons C, Rius R, Formaini E, Sullivan KE, Andzelm M, Ebrahimi-Fakhari D, Otten C, Wong S, Reynolds T, Schiffmann R, Wolf NI, Waisfisz Q, Niermeijer JM, DeMarzo D, Dawood M, Gandhi M, Levine JM, Chinn IK, Fisher K, Emrick L, Alam CA, Kaiyrzhanov R, Maroofian R, Houlden H, Jhangiani SN, Mehta HH, Muzny DM, Sedlazeck FJ, Posey JE, Lupski JR, Gibbs RA, Rajagopalan R, Vanderver A.: PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance. medRxiv Apr 2026.
Gonzalez Saez-Diez E, Ferrer Socorro M, Yang K, Battaglia N, Zaman Z, Bennett M, Vanderver A, Lee PY, Henderson LA, Andzelm MM, Ebrahimi-Fakhari D.: Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation. Ann Clin Transl Neurol Apr 2026.