Jodie M Vento

  • Assistant Professor and Director, Genetic Counseling Program
  • Faculty in Human Genetics and Leadership Education in Neurodevelopmental Disabilities and Related Disorders (LEND)

Jodie Vento joined the Genetic Counseling Program as the Director in September 2020. Jodie joins with extensive clinical experience in pediatric genetics and rare diseases. Jodie also brings a strong background in management, research and assessment of access issues related to genetic counseling and testing.

Jodie is the Insurance Alignment Committee Chair for the Patient-Centered Laboratory Guidance Services (PLUGS) Group out of Seattle Children’s Hospital. Jodie is also an active member of NSGC and is currently on the Board of Directors. In her role at NSGC, she has served as the chair of the Access and Service Delivery committee and the co-chair of the Test Utilization Subcommittee within the Industry SIG. Jodie is also the Founder and Past President of the Pennsylvania Association of Genetic Counselors. Jodie serves as the Genetics Faculty for the Leadership Education in Neurodevelopmental Disabilities and Related Disorders (LEND) Program at the University of Pittsburgh. Throughout her career, Jodie has worked closely with rare disease community and will continue this work through the Pennsylvania Rare Disease Advisory Council (PARDAC).

Jodie’s teaching interests are in genetic testing technologies, neurogenetics, psychosocial counseling and general pediatrics. Her research interests include rare disease, access to genomic services, and payer policies.


2005 | University of Pittsburgh, Pittsburgh, PA | BS, Biological Sciences and Psychology
2008 | University of Maryland, School of Medicine, Baltimore, MD | MGC, Genetic Counseling


PUBHLT 0453: Introduction to Genetic Counseling

HUGEN 2035: Principles of Genetic Counseling

HUGEN 2036: Genetic Counseling Internship

HUGEN 2038: Intervention Skills for Genetic Counselors

HUGEN 2047: Clinical Genetics Case Conference

HRS 2079: Leadership Seminar in Maternal & Child Health I

HRS 2090: Leadership Seminar in Maternal & Child Health II

Search for students' electronic thesis and dissertations

Selected Publications

Refereed Articles

  1. Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L,Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.Am J Med Genet A. 2014 Mar;164A(3):627-33.
  2. Vandewalle J, Bauters M, Van Esch H, Belet S, Verbeeck J, Fieremans N, Holvoet M,Vento J, Spreiz A, Kotzot D, Haberlandt E, Rosenfeld J, Andrieux J, Delobel B, Dehouck MB, Devriendt K, Fryns JP, Marynen P, Goldstein A, Froyen G. The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability. Hum Genet (2013) 132:1177–1185.
  3. J. L. Schmidt, I. Olivieri,J. M. Vento, E. Fazzi, H. Gordish-Dressman, S. Orcesi, and A. Vanderver. (2012). Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome. Clinical and Developmental Immunology. Vol 2012: 1-6.
  4. Jennifer J. Johnston, Andrea L. Gropman, Julie C. Sapp, Jamie K. Teer,Jodie M. Martin, Cyndi F. Liu, Xuan Yuan, Zhaohui Ye, Linzhao Cheng, Robert A. Brodsky, and Leslie G. Biesecker. (2012) The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria, The American Journal of Human Genetics doi:10.1016/j.ajhg.2011.11.031.
  5. N. Ah Mew, J. Loewenstein, N. Kadom, U. Lichter-Konecki, A. Gropman, J. Martin, A. Vanderver. MRI Features of 4 Female Patients with Pyruvate Dehydrogenase E1 alpha Deficiency. Pediatric Neurology, 2011 Jul; 45(1):57-9.

Books and Book Chapters

1. J. M. Vento. Genetic Counseling in the Metabolic Epilepsies.Inherited Metabolic Epilepsies, Second Edition.Springer, P. L. Pearl (2018).

Invited Articles

  • Goldstein AC, Bhatia P,Vento JM. (2013) Mitochondrial disease in childhood: nuclear encoded. Neurotherapeutics. 10(2):212-26.
  • Vento JM, Pappa B. Genetic Counseling Issues in Mitochondrial Disease. Neurotherapeutics. 2012 Dec 22.
  • Vento JM, Schmidt JL. (2012) Genetic testing in child neurology. Seminars in Pediatric Neurology. 19(4):167-172.
  • Goldstein AC, Bhatia P,Vento JM. (2012) Update on Nuclear Mitochondrial Genes and Neurologic Disorders. Seminars in Pediatric Neurology. 19(4):181-193.
  • Vento JM. (2012) Family History: A Guide for Neurologists in the Age of Genomic Medicine. Seminars in Pediatric Neurology. 19(4):160-166.