Adeline Vanderver
Professor of Neurology
Department: Neurology
Graduate Group Affiliations
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
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.
Permanent linkTransitional 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.
Description of Itmat Expertise
LeukodystrophiesSelected Publications
Gavazzi F, Gonzalez CD, Arnold K, Swantkowski M, Charlton L, Modesti N, Dar AA, Vanderver A, Bennett M, Adang LA.: Nucleotide metabolism, leukodystrophies, and CNS pathology. J Inherit Metab Dis February 2024.Garcia L, Gonzalez CD, Gagne A, McGuire JA, French D, Takanohashi A, Almad A, Vanderver A, Sase S.: Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1. Stem Cell Res February 2024.
Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE;: UDN Consortium. Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ Genom Med January 2024.
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC: Biochemical signatures of disease severity in multiple sulfatase deficiency. J Inherit Metab Dis October 2023.
Wong KN, Botto LD, He M, Baker PR 2nd, Vanderver A, Bonkowsky JL.: Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review. Neurol Genet September 2023.
Gavazzi F, Patel V, Charsar B, Erler JA, Glanzman AM, McKenzie E, Kornafel T, Ballance E, Harrington A, Pierce SR, Teng M, Formanowski B, Woidill S, Shults J, Wassmer E, Tonduti D, Magrinelli F, Bernard G, van der Knaap M, Wolf NI, Adang L, Vanderver A: Gross Motor Function In Pediatric Onset TUBB4A-related Leukodystrophy: GMFM-88 Performance And Validation Of GMFC-MLD Use. American Neurological Associatio September 2023.
Mutua S, Sevagamoorthy A, Gavazzi F, Thakur N, D’Aiello R, Woidil S, Yu E, Shults J, Vanderver A, Adang L: Mapping function prior to diagnosis is essential in metachromatic leukodystrophy. American Neurological Association September 2023.
Sase S, Hacker J, Napit P, Woidill S, Takanohashi A, Padiath Q, Marsh W, Vanderver A : Therapeutic suppression of Tubulin alpha 4a rescues H-ABC leukodystrophy in mice. American Neurological Association September 2023 Notes: Travel award received by Dr. Sase from the ANA for this work.
Ahmed F, Do N, Vanderver A, Treat JR: Dyschromatosis symmetrica hereditaria: a clue to early diagnosis of Aicardi-Goutières syndrome. Pediatric Dermatology September 2023.