Victor E. Velculescu, MD, PhD

Professional Titles

Co-Director of Cancer Genetics and Epigenetics Program, Johns Hopkins Kimmel Cancer Center

Primary Academic Title

Professor of Oncology

Background

Centers and Institutes

• Bloomberg School of Public Health
• Bloomberg~Kimmel Institute for Cancer Immunotherapy
• Institute for Computational Medicine
• McKusick-Nathans Institute of Genetic Medicine
• Sidney Kimmel Comprehensive Cancer Center

LinkedIn

https://www.linkedin.com/in/victor-velculescu-1241716/

Videos

• The Bloomberg~Kimmel Institute: Immunotherapy - Game Changer, Game Challenge

Recent News Articles and Media Coverage

• AI May Bring a Better Blood Test for Ovarian Cancer, US News and World Report, (April 10, 2024).  
• AI explores ‘dark genome’ to shed light on cancer growth,  Financial Times, (March 13, 2024).
• ‘Junk DNA’ No More: Johns Hopkins Investigators Develop Method of Identifying Cancers from Repeat Elements of Genetic Code,  Johns Hopkins Medicine, (March 13, 2024).
• Delfi Diagnostics launches blood-based lung cancer screening test.  Fierce Biotech, (October 9, 2023).  
• Novel Machine Learning Blood Test Detects Cancers with Genome-Wide Mutations in Single Molecules of Cell-Free DNA.  Johns Hopkins Medicine, (July 27, 2023).
• Baltimore researchers say AI could help reduce disparities, improve access in health care.  Baltimore Sun, (January 29, 2023).
• Artificial Intelligence is Being Used to Help Save Lives.  Voice of America (February 20, 2024).  
• Hopkins researchers working to make blood test to detect cancer.  WBAL-TV, (November 22, 2022).  
• Novel DELFI AI Blood Test May Aid in Detecting Hepatocellular Carcinoma, ASCO Post, (November 30, 2022).
• Novel AI Blood Testing Technology Can ID Lung Cancers with High Accuracy.  Johns Hopkins Medicine, (August 20, 2021).
• AI Blood Test Proves Useful in Lung Cancer Detection.  Medpage Today,( Aug 25, 2021).
• Johns Hopkins Researchers Design New Blood Test That Uses DNA ‘Packaging’ Patterns to Detect Multiple Cancer Types.  Johns Hopkins Medicine, (May 29, 2019).
• Blood Test Could Spot Multiple Cancer Types, Researchers Say.  US News and World Report( May 29, 2019).  
• Ovarian Cancer Doesn’t Begin in the Ovaries, Researchers Say.  Wall Street Journal. ( Feb 12, 2018)

Additional Academic Titles

Professor of Genetic Medicine, Professor of Pathology, Professor of Medicine

Contact for Research Inquiries

1550 Orleans Street, Suite 544
Koch Cancer Research Building
Baltimore, MD 21287

Phone: (410) 955-7033
velculescu@jhmi.edu

Research Interests

Cancer Genomics, Liquid Biopsies, Artificial Intelligence, Early Cancer Detection and Interception, Precision Medicine

Lab Website

https://cancergenomicslab.com

Research Summary

The Cancer Genomics Lab has a history of practice-changing discoveries in cancer research. These include the first genome-wide sequence analysis in human cancers, identifying key genes and pathways dysregulated in tumorigenesis. Members of the group developed methods for global gene expression analyses and coined the word “transcriptome” to describe the patterns that could now obtained in cancer and other cells. This research revealed the genomic landscape of human cancers, including in breast, colorectal, brain, pancreatic, ovarian, and lung cancers. These analyses identified a variety of genes not previously known to be involved in neoplasia, including PIK3CA as one of the most highly mutated genes in human cancer. These discoveries have led to new FDA approved therapies against PI3K and IDH1, and diagnostic tests for comprehensive tumor profiling. More recently, the group has created non-invasive machine learning liquid biopsy approaches for early detection and monitoring of cancer patients. This work has provided new paradigms for understanding human cancer that have paved the way for precision medicine and benefited patients worldwide.

Current areas of focus include:

1. Cancer Genomics: Genomic and epigenetic landscapes of human cancers, including the origin and evolution of early lesions.
2. Liquid Biopsies: New approaches for early cancer detection, including through genome-wide fragmentation profiles and other characteristics of cell-free DNA.
3. Artificial Intelligence: Machine learning methods for noninvasive diagnosis and detection of cancer.
4. Disease Interception: New targets and pathways for therapeutic intervention, mechanisms of response and resistance, and approaches for precision medicine and monitoring of patients during therapy.

Google Scholar

https://scholar.google.com/citations?user=1OhWXBYAAAAJ&hl=en&oi=ao

PubMed

https://pubmed.ncbi.nlm.nih.gov/?term=velculescu%5Bauthor%5D&sort=date&size=100

Selected Publications

1. Medina JE, Annapragada AV, Lof P, Short S, Bartolomucci AL, Mathios D, Koul S, Niknafs N, Noe M, Foda ZH, Bruhm DC, Hruban C, Vulpescu NA, Jung E, Dua R, Canzoniero JV, Cristiano S, Adleff V, Symecko H, van den Broek D, Sokoll LJ, Baylin SB, Press MF, Slamon DJ, Konecny GE, Therkildsen C, Carvalho B, Meijer GA, Andersen CL, Domchek SM, Drapkin R, Scharpf RB, Phallen J, Lok CAR, Velculescu VE.  Early detection of ovarian cancer using cell-free DNA fragmentomes and protein biomarkers.  Cancer Discovery. 2025 Jan 13;15(1):105-118.  PMID: 39345137.  Article
2. Mazzone PJ, Bach PB, Carey J, Schonewolf CA, Bognar K, Ahluwalia MS, Cruz-Correa M, Gierada D, Kotagiri S, Lloyd K, Maldonado F, Ortendahl JD, Sequist LV, Silvestri GA, Tanner N, Thompson JC, Vachani A, Wong KK, Zaidi AH, Catallini J, Gershman A, Lumbard K, Millberg LK, Nawrocki J, Portwood C, Rangnekar A, Sheridan CC, Trivedi N, Wu T, Zong Y, Cotton L, Ryan A, Cisar C, Leal A, Dracopoli NC, Scharpf RB, Velculescu VE, Pike LRG.  Clinical validation of a cell-free DNA fragmentome assay for augmentation of lung cancer early detection.  Cancer Discovery. 2024 Nov 1;14(11):2224-2242. PMID: 38829053.  Article | Press
3. Annapragada AV, Niknafs N, White JR, Bruhm DC, Cherry C, Medina JE, Adleff V, Hruban C, Mathios D, Foda ZH, Phallen J, Scharpf RB, Velculescu VE.  Genome-wide repeat landscapes in cancer and cell-free DNA.  Science Translational Medicine. 2024 Mar 13;16(738):eadj9283. doi: 10.1126/scitranslmed.adj9283. Epub 2024 Mar 13.  PMID: 38478628
4. Bruhm DC, Mathios D, Foda ZH, Annapragada AV, Medina JE, Adleff V, Chiao EJ, Ferreira L, Cristiano S, White JR, Mazzilli SA, Billatos E, Spira A, Zaidi AH, Mueller J, Kim AK, Anagnostou V, Phallen J, Scharpf RB, Velculescu VE.  Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer.  Nature Genetics. 2023 Aug;55(8):1301-1310.  PMID: 37500728
5. Cristiano S, Leal A, Phallen J, Fiksel J, Adleff V, Bruhm DC, Jensen SØ, Medina JE, Hruban C, White JR, Palsgrove DN, Niknafs N, Anagnostou V, Forde P, Naidoo J, Marrone K, Brahmer J, Woodward BD, Husain H, van Rooijen KL, Ørntoft MW, Madsen AH, van de Velde CJH, Verheij M, Cats A, Punt CJA, Vink GR, van Grieken NCT, Koopman M, Fijneman RJA, Johansen JS, Nielsen HJ, Meijer GA, Andersen CL, Scharpf RB, Velculescu VE.  Genome-wide cell-free DNA fragmentation in patients with cancer.  Nature. 2019 Jun;570(7761):385-389. PMID: 31142840.

Patents

Inventor of 119 patents or patent applications issued or under consideration by the U.S. Patent and Trademark Office, and more than 509 patents and patent applications world-wide.

Honors

• Graduated with Honors and Distinction, Stanford University, 1992
• Dynal Literature Award, Dynal Biotech, 1996
• Michael Shanoff Research Award, Johns Hopkins University School of Medicine, 1998
• International Grand Prize Winner, Amersham & Science Young Scientist Prize, 1999
• Order of Merit - Cavalier, President of Romania, 2000
• Pew Scholar Award, The Pew Charitable Trusts, 2004
• Sir William Osler Young Investigator Award, Interurban Clinical Club, 2006
• Judson Daland Prize, American Philosophical Society, 2007
• European Association of Cancer Research and Carcinogenesis Young Investigator Award, 2008
• American Association of Cancer Research Award for Outstanding Achievement in Cancer Research, 2009
• Paul Marks Prize for Cancer Research, Memorial Sloan-Kettering Cancer Center, 2011
• Elected to Sir William Osler Interurban Clinical Club, 2011
• AACR Team Science Award for Pancreatic Cancer Research, 2013
• AACR Team Science Award for Malignant Brain Tumor Research, 2014
• Elected to Alpha Omega Alpha Honor Medical Society, 2014
• Highly Cited Researcher, Thompson Reuters, since 2014
• Elected to American Society for Clinical Investigation, 2014
• Ernst and Young Entrepreneur of the Year Award for Maryland, 2016
• Elected as Foreign Honorary Member to the Romanian Academy, 2017
• AACR Team Science Award for Research in Liquid Biopsies for Cancer, 2017
• Elected to American Association of Physicians (AAP), 2018
• Carol and Dick Hertzberg Prize for Technological Innovations, UCSD, 2018
• Victor Babeş Honorary Scientist Award, 2021
• Elected Fellow of the American Association of Cancer Research (AACR) Academy, 2022
• Elected as Fellow of the National Academy of Inventors, 2023
• Awarded Doctor Honoris Causa by Carol Davila University of Medicine in Bucharest, 2023
• Carol Davila Prize for Medicine, Romanian Academy MLN, 2024
• Pioneer Award, Precision Medicine World Conference (PMWC) , 2025

Graduate Program Affiliations

• Program in Human Genetics

• Cellular and Molecular Medicine Program

Memberships

• Board of Directors, American Association of Cancer Research
• Scientific Advisory Committee, Ludwig Cancer Research
• External Advisory Board, Cancer Research UK
• Co-Leader, Stand Up to Cancer Colorectal Cancer Dream Team