December 23, 2024

Revolutionizing Cancer Detection: New Machine Learning Method Deciphers Genomic “Dark Matter”

ARTEMIS, a brand-new device learning tool by Johns Hopkins researchers, recognizes repeat DNA sequences in cancer, enabling noninvasive diagnosis and insights into cancer genes. A description of the work is to be published March 13 in Science Translational Medicine.ARTEMIS Unveils the Role of “Dark Genome” in Cancer”When you believe about existing cancer genes and the DNA sequences around them, theyre simply chock full of these repeats,” says Victor E. Velculescu, M.D., Ph.D., a teacher of oncology and co-director of the Cancer Genetics and Epigenetics Program at the Johns Hopkins Kimmel Cancer Center, who led the research study with Akshaya Annapragada, an M.D./ Ph.D. student at the Johns Hopkins University School of Medicine, and Robert Scharpf, Ph.D., an associate professor of oncology at Johns Hopkins.”Reference: “Genome-wide repeat landscapes in cancer and cell-free DNA” by Akshaya V. Annapragada, Noushin Niknafs, James R. White, Daniel C. Bruhm, Christopher Cherry, Jamie E. Medina, Vilmos Adleff, Carolyn Hruban, Dimitrios Mathios, Zachariah H. Foda, Jillian Phallen, Robert B. Scharpf and Victor E. Velculescu, 13 March 2024, Science Translational Medicine.DOI: 10.1126/ scitranslmed.adj9283The work was supported in part by the Dr. Miriam and Sheldon G. Adelson Medical Research Foundation, Stand Up to Cancer (SU2C) in-Time Lung Cancer Interception Dream Team Grant, SU2C-Dutch Cancer Society International Translational Cancer Research Dream Team Grant (SU2C-AACR-DT1415), the Gray Foundation, The Honorable Tina Brozman Foundation, the Commonwealth Foundation, the Mark Foundation for Cancer Research, the Cole Foundation, a research study grant from Delfi Diagnostics and U.S. National Institutes of Health grants CA121113, CA006973, CA233259, 1T32GM136577, ca062924 and ca271896.

ARTEMIS, a new device discovering tool by Johns Hopkins scientists, determines repeat DNA sequences in cancer, making it possible for noninvasive medical diagnosis and insights into cancer genes. A description of the work is to be released March 13 in Science Translational Medicine.ARTEMIS Unveils the Role of “Dark Genome” in Cancer”When you believe about existing cancer genes and the DNA sequences around them, theyre simply chock full of these repeats,” says Victor E. Velculescu, M.D., Ph.D., a professor of oncology and co-director of the Cancer Genetics and Epigenetics Program at the Johns Hopkins Kimmel Cancer Center, who led the research study with Akshaya Annapragada, an M.D./ Ph.D. trainee at the Johns Hopkins University School of Medicine, and Robert Scharpf, Ph.D., an associate professor of oncology at Johns Hopkins. Increased ARTEMIS scores were associated with much shorter overall and progression-free survival regardless of tumor type.Enhancements in Cancer Detection and MonitoringThe detectives next examined ARTEMIS possible for noninvasive detection of cancer. “By lighting up the so-called dark genome, the work offers special insights into the cancer genome and provides a proof-of-concept for the utility of genome-wide repeat landscapes as tissue and blood-based biomarkers for cancer detection, tracking, and characterization.”Reference: “Genome-wide repeat landscapes in cancer and cell-free DNA” by Akshaya V. Annapragada, Noushin Niknafs, James R. White, Daniel C. Bruhm, Christopher Cherry, Jamie E. Medina, Vilmos Adleff, Carolyn Hruban, Dimitrios Mathios, Zachariah H. Foda, Jillian Phallen, Robert B. Scharpf and Victor E. Velculescu, 13 March 2024, Science Translational Medicine.DOI: 10.1126/ scitranslmed.adj9283The work was supported in part by the Dr. Miriam and Sheldon G. Adelson Medical Research Foundation, Stand Up to Cancer (SU2C) in-Time Lung Cancer Interception Dream Team Grant, SU2C-Dutch Cancer Society International Translational Cancer Research Dream Team Grant (SU2C-AACR-DT1415), the Gray Foundation, The Honorable Tina Brozman Foundation, the Commonwealth Foundation, the Mark Foundation for Cancer Research, the Cole Foundation, a research study grant from Delfi Diagnostics and U.S. National Institutes of Health grants CA121113, CA006973, CA233259, CA271896, 1t32gm136577 and ca062924.