Faculty
Adeline Vanderver, M.D.
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.
Permanent linkCM (Candidature en Médecine)
Facultés Universitaires Notre Dame de la Paix Namur, Belgium , 1994.
MD
Universite Catholique de Louvain Brussels, Belgium , 1998.
Selected Publications
Barbieri N, Sergio E, Regan M, Woidill S, Khan A, Gavazzi F, Horn BD, Baldwin K, Spiegel D, D’Aiello R, Grundmeier R, Kotes E, Vanderver A, Goodbody C, Evans S.: The Importance of Ambulatory Status on Risk of Hip Displacement in Patients with Leukodystrophy. American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) Annual Meeting October 2024.Adang L, Malanga C, Burton B, Biugliani R, Gröschel S, Inbar-Feigenberg M, Sevin C, del Toro Riera M, Yin S, Rathmann S, Whiteman D, Vanderver A: A phase 2 study assessing TAK-611 150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (NCT03771898; SHP611-201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD). World Symposium 2024 February 2024.
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.
Sevagamoorthy A, Gavazzi F, Sherbini O, Vincent A, D’Aiello R, Barcelos I, Modesti NB, Mutua S, Yu E, Woidill S, Schmidt JL, Pizzino A, Shults J, Vanderver A, Adang A.: Development of a rigorous approach for retrospective natural history studies in leukodystrophies. World Symposium 2024 February 2024.
de Barcelos IP, Woidill S, Gavazzi F, Modesti NB, Sevagamoorthy A, Vanderver A, Adang L.: Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutieres Syndrome (AGS). Mol Genet Metab 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.
Ahmed F, Do N, Vanderver A, Treat JR: Dyschromatosis symmetrica hereditaria: a clue to early diagnosis of Aicardi-Goutières syndrome. Pediatric Dermatology September 2023.
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