Adeline Vanderver, MD, is an Attending Physician in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP) and the Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics. She is also Program Director of the Leukodystrophy Center of Excellence at CHOP.
Leukodystrophies are a group of inherited degenerative diseases that affect the white matter in the brain and spinal cord. Currently, leukodystrophies include about 30 disorders, and scientists estimate they occur in 1 in 7,000 births. Dr. Vanderver has focused on these diseases throughout her career, and previously helped to identify the genetic causes of a number of leukodystrophies using next generation sequencing.
Under Dr. Vanderver’s leadership, the multidisciplinary Leukodystrophy Center team is focused on creating new standards of care for children with leukodystrophies by advancing leukodystrophy gene discovery, creating new therapies, and supporting and advocating for patients and their families.
In parallel with this strong clinical program, Dr. Vanderver’s preclinical and clinical research projects will aim to discover molecular therapeutics that target the genetics of leukodystrophy subtypes.
Already, Dr. Vanderver is leading two clinical studies that intend to repurpose medications — one that is currently used to treat human immunodeficiency virus (HIV) and another that targets interferon — for patients with Aicardi-Goutieres syndrome. Another clinical trial underway is assessing the efficacy and utility of whole genome sequencing as a first-line diagnostic test for leukodystrophies.
In addition to her clinical and research efforts, Dr. Vanderver leads the Global Leukodystrophy Initiative, an advocacy group that includes parents, clinicians and researchers, to raise disease awareness and ensure that patients receive appropriate social and medical support.
Dr. Vanderver graduated with a degree in medicine from Universite Catholique de Louvain in Brussels, Belgium. She completed her residency in pediatrics at Nemours/A.I. duPont Hospital for Children in Wilmington, DE, and Thomas Jefferson University in Philadelphia, PA. She then pursued a child neurology fellowship at Children's National Medical Center in Washington, DC, and a fellowship in biochemical genetics at the National Human Genome Research Institute/National Institutes of Health in Bethesda, MD.
MD - Universite Catholique de Louvain Brussels, Belgium
Transitional Year - Frankford Hospital, Temple University, Philadelphia, PA
Pediatrics - A.I. duPont Hospital for Children, Wilmington, DE, and Thomas Jefferson University, Philadelphia, PA
Child Neurology - Children's National Medical Center, Washington, DC
Biochemical Genetics - National Human Genome Research Institute/National Institutes of Health, Bethesda, MD
Biochemical GeneticsChild NeurologyNeurologyPediatrics
Program Director, Leukodystrophy Center of Excellence
Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics
Professor of Neurology, Perelman School of Medicine at the University of Pennsylvania
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network, Gelb BD, Kurth I, Hempel M, Kutsche K. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain. 2020 Aug 1;143(8):2437-2453.PMID: 32761064
Nahhas N, Conant A, Orthmann-Murphy J, et al. Pelizaeus-Merzbacher-Like Disease 1. 2017 Dec 21. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
Helman G, Venkateswaran S, Vanderver A. The spectrum of adult-onset heritable white-matter disorders. Handb Clin Neurol. 2018;148:669-692. doi: 10.1016/B978-0-444-64076-5.00043-0. PMID:29478607
Wells E, Hacohen Y, Waldman A, Tillema JM, Soldatos A, Ances B, Benseler S, Bielekova B, Dale RC, Dalmau J, Gaillard W, Gorman M, Greenberg B, Hyslop A, Pardo CA, Tasker RC, Yeh EA, Bar-Or A, Pittock S, Vanderver A, Banwell B. Neuroimmune disorders of the central nervous system in children in the molecular era. Nat Rev Neurol. 2018 Jun 20. PMID: 29925924
Sase S, Takanohashi A, Vanderver A, Almad A. Astrocytes, an active player in Aicardi-Goutières syndrome. Brain Pathol. 2018 May;28(3):399-407. PMID: 29740948
Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants. Neurology. 2018 Apr 17;90(16):e1395-e1403. Epub 2018 Mar 21. PMID: 29661901
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group, van der Knaap MS. Natural History of Vanishing White Matter. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.
Köhler W, Curiel J, Vanderver A. Adulthood Leukodystrophies. Nature Reviews 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Review. PMID:29302065
Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B and Thiamine Deficiency Study Group. Thiamine Deficiency In Childhood With Attention To Genetic Causes: Survival And Outcome Predictors, In Press Annals of Neurology
Gavazzi F, Adang L, Jan A, Lorch S, DeMauro S, Shults J, Kornafel T, Glanzman AM, Vanderver A. Validation of the telemedicine application of the Gross Motor Function Measure-88, Presented as a poster at the 2021 Child Neurology Society Annual Meeting, Boston, MA
Gavazzi F, Martin A, Adang L, DeMauro SB, Lorch S, Vanderver A. Diagnosis delay in Aicardi Goutières Syndrome: a parents’ perspective, Presented as a poster at the 2021 Child Neurology Society Annual Meeting, Boston, MA
Gavazzi F, Martin A, Adang L, DeMauro SB, Lorch S, Vanderver A. Burden of disease in a rare neurologic disorder: caregiver’s perspective on Aicardi Goutières Syndrome, Presented as a poster at the 2021 Child Neurology Society Annual Meeting, Boston, MA
Almad A, “Modeling of TUBB4A associated Leukodystrophy,” presented as a platgform at the American Society of Neurochemistry Colloquium, April 2020, St. Charles, Missouri
Malhotra A, Ziegler A, Perrier R, Li S, Amlie-Wolf L, Wohler E, Sobreira N, Mao X, Bonneau D, Vanderver A, Taft R De novo missense variants in the LMBRD2 gene: GeneMatcher collaboration. American Society for Human Genetics Annual Meeting, October 2019, Houston, TX
Briere LC, Dutta D, Marcogliese PC, Kanca O, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Taft R, Simons C, Helman G, The Undiagnosed Diseases Network, Wangler M, Yamamoto S, Sweetser DA, Bellen HJ. De novo Mutations in TOMM70, an Outer Mitochondrial Membrane Translocase Subunit, Causes Developmental Delay and Neurological Phenotypes. American College of Medical Genetics and Genomics Annual Meeting, San Antonio, TX, March 2020
Whiteman D, Adang L, Krägeloh-Mann I, Gray J, Jacobsen L, Li J, Vanderver A. Intrathecally Administered Recombinant Human Arylsulfatase A In Patients With Late-infantile MLD: Phase 2b Study Design. American College of Medical Genetics and Genomics Annual Meeting, San Antonio, TX, March 2020
Armangue T, Olivé G, Martinez E, Sepulveda M, Ruiz G, Arrambide G, Acosta CA, Tintore M, Montalban X, Graus F, Saiz A, Dalmau J. Investigations On Myelin Oligodendrocyte Glycoprotein Autoimmunity In Children. American Academy of Neurology Annual Meeting, Toronto, ON, Canada, April 2020
Sase S, Hacker J, Almad A, Takanohashi A, Padiath Q, and Vanderver A. Germline and Therapeutic Suppression of Tubb4a rescues H-ABC associated leukodystrophy. Glia in Health and Disease, Cold Spring Harbor, July 2020.
Almad A, Garcia L, Sase S, Boecker A, Scherer A, Vanderver A. Impact of Tubb4a mutations on neuronal and oligodendrocyte health. Glia in Health and Disease, Cold Spring Harbor, July 2020.
Alsubhi1 S, Forghani I, Bartlett M, Yergeau C, Saint-Martin C, Geraghty M, Vanderver A, Al-Jasmi F, Srour M, Braverman N. ACBD5 Peroxisomal Disorder: Functional analysis and Clinical phenotyping, Provincial mother child research conference, October 2020, Quebec, Canada
Adang L, Patel A, Sherbini O, Kramer-Golinkoff J, Shults J, Vanderver A. Clinical presentation of Metachromatic Leukodystrophy. WORLD 2019, Orlando, FL (February 2019).
Adang L, Patel A, Sherbini O, Kramer-Golinkoff J, Shults J, Vanderver A. Clinical presentation of Metachromatic Leukodystrophy. Association for Clinical and Translational Science Meeting, Washington DC (March 2019)
Charsar BA, Hamilton EMC, Cross Z, Sherbini S, Simons C, van der Knaap MS, Vanderver A. Classification Of Mutations In Tubb4a: A New Spectrum Of Disease. Accepted for a poster presentation at the American Academy of Neurology 71st Annual Meeting, May 4 to May 10, 2019 in Philadelphia, PA
Cross ZM, Kriegermeier A, McMann JM, Rand EB, Takanohashi A, Ulrick N, Vanderver A, Adang L. Autoimmune Hepatitis in Aicardi-Goutières Syndrome. Accepted for a poster presentation at the American Academy of Neurology 71st Annual Meeting, May 4 to May 10, 2019 in Philadelphia, PA
Takanohashi A, Besnier C, Gavazzi F, Kramer-Golinkoff J, Koh J, Peer K, Woidill C, Vanderver A. Cross-analysis of Interferon Signature in a cohort of Aicardi-Goutières Syndrome subjects. Accepted for a poster presentation at the American Academy of Neurology 71st Annual Meeting, May 4 to May 10, 2019 in Philadelphia, PA
Turk B , Adang L, Eichler F, Van Haren K, Hollandsworth K, Kurtzberg J, Kwon J, Lund T, Mallack E, Moser A, Orchard P, Orsini J, Rauner B, Raymond G, Salzman A, Seeger E, Fatemi A. MRI Surveillance Consensus Guidelines for Children with Adrenoleukodystrophy. Accepted for a poster presentation at the American Academy of Neurology 71st Annual Meeting, May 4 to May 10, 2019 in Philadelphia, PA.
Adang L, Gavazzi F, De Simone M, Kramer-Golinkoff J, Fazzi E, Galli J, Koh J, Peer K, Orcesi S, Ulrick N, Woidill S, Shults J, and Vanderver A. Developmental outcomes of Aicardi Goutières Syndrome. Accepted for a poster presentation at the American Academy of Neurology 71st Annual Meeting, May 4 to May 10, 2019 in Philadelphia, PA.
Vanderver A, Sherbini O, Cross Z, Charsar B, Cross E, Harrington A, Kopin K, Kramer-Golinkoff J. Clinical Outcome Assessments in TUBB4A-associated Leukoencephalopathies. Accepted for a poster presentation at the American Academy of Neurology 71st Annual Meeting, May 4 to May 10, 2019 in Philadelphia, PA.
Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov D, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C, DDD Study, Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G. Clinical Spectrum of POLR3-related Leukodystrophy Caused by Biallelic POLR1C Pathogenic Variants. Canadian Neurological Sciences Federation 54th Congress, Montreal, June 2019.
Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A, Developmental outcomes of Aicardi Goutières Syndrome, 48th Annual Meeting of the Child Neurology Society, October 2019 in Charlotte, NC.
Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, De Giorgis V, Orcesi S, Shults J, Vanderver A, Development and reliability of a scale for neurologic function in children with Aicardi Goutieres Syndrome, 48th Annual Meeting of the Child Neurology Society, October 2019 in Charlotte, NC.
Adang L, Groschel S, Patel A, Cross Z, Elgun S, Kramer-Golinkoff J, Sherbini O, Stutterd C, Shults J, Vanderver A, Clinical presentation of Metachromatic Leukodystrophy, 48th Annual Meeting of the Child Neurology Society, October 2019 in Charlotte, NC.
Adang L, Vanderver A, Whiteman D, Krägeloh-Mann I, Gray J, Wu J, Wasilewski M. Intrathecally administered recombinant human arylsulfatase A in patients with late-infantile metachromatic leukodystrophy: phase 2b clinical trial design. SSIEM 2019 Symposium, Rotterdam, the Netherlands, September 2019.
Sabetrasekh P, Vanderver A. Alexander disease; Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics: A case-based clinical guide. Editors: Emmanuelle Waubant and Timothy Lotze, Publisher: Springer, Projected Publication Date: January 2017
Ulrick N, Vanderver A. Hypomyelination with Brainstem and Spine involvement and Leg spasticity; Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics: A case-based clinical guide. Editors: Emmanuelle Waubant and Timothy Lotze, Publisher: Springer, Projected Publication Date: January 2017
2015, Murdoch Children's Research Institute Visiting Fellows Award, Royal Children's Hospital of Melbourne, Australia
2013, Early Career Reviewer (ECR) program at the Center for Scientific Review (CSR), National Institutes of Health
2007, United Leukodystrophy Foundation Travel Award
2007, American Academy of Neurology Foundation Clinical Research Training Fellowship
2004, American Academy of Neurology resident scholarship award
2003, Outstanding Junior Member Award, Child Neurology Society
2002, Ortho-McNeil TopScholars Program, Child Neurology Society Meeting
2007-present, Journal of Pediatric Neurology
2007-present, Clinical Autonomic Research
2005-present, Society for Inherited Metabolic Disease, Invited Member
2008-present, Society for Neuroscience (Member)
2007-present, Consortium of MS Centers (Member)
2001-present, Child Neurology Society (Member)
2001-present, American Academy of Neurology (Member)
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