Periodic Reporting for period 1 - SANGUINE (Early detection and screening of hematological malignancies)
Reporting period: 2023-01-01 to 2024-06-30
Project SANGUINE addresses the objectives raised by the Cancer Mission Call, which emerged from the growing societal challenge faced by European citizens. According to the European Cancer Information System (ECIS), each year, 2.7 million people in the EU are diagnosed with cancer. The SANGUINE project focuses on hematological malignancies, which account for 10% of those cases, and aims to target the four objectives of the Cancer Mission: (1) understanding, (2) prevention, including screening and early detection, (3) diagnosis, and (4) quality of life improvement of the patients and their relatives.
The project introduces a novel blood test that detects and classifies a set of hematological malignancies. The test is based on detecting a combination of epigenetic biomarkers in DNA from peripheral blood cells and in cell-free DNA from blood plasma.
The SANGUINE test will provide superior sensitivity at low-cost, which is ideal for screening purposes. This is enabled by direct fluorescent labeling of epigenetic marks in patient DNA and its analysis on a custom designed microarray – the HemaChip. SANGUINEs’ team consists of a comprehensive and strong team of experts that will address medical, technological, and social aspects of the developed blood-test. A strong partnership with several medical centers will enable optimization of the test for hematological malignancies following a user-centric approach and experiencing its implementation in “real-life” clinical settings. The social part of the team includes researchers and patient organizations that will promote accessibility of the test to patients and individuals at-risk for screening, early detection and disease management, in combination with a study aiming to increase the screening rates. Ultimately, our project will provide HemaChips, validated reagents,, and data analysis software that provide an end-to-end solution for large-scale screening and early-stage commercialization
The project introduces a novel blood test that detects and classifies a set of hematological malignancies. The test is based on detecting a combination of epigenetic biomarkers in DNA from peripheral blood cells and in cell-free DNA from blood plasma.
The SANGUINE test will provide superior sensitivity at low-cost, which is ideal for screening purposes. This is enabled by direct fluorescent labeling of epigenetic marks in patient DNA and its analysis on a custom designed microarray – the HemaChip. SANGUINEs’ team consists of a comprehensive and strong team of experts that will address medical, technological, and social aspects of the developed blood-test. A strong partnership with several medical centers will enable optimization of the test for hematological malignancies following a user-centric approach and experiencing its implementation in “real-life” clinical settings. The social part of the team includes researchers and patient organizations that will promote accessibility of the test to patients and individuals at-risk for screening, early detection and disease management, in combination with a study aiming to increase the screening rates. Ultimately, our project will provide HemaChips, validated reagents,, and data analysis software that provide an end-to-end solution for large-scale screening and early-stage commercialization
Currently, we are finalizing the first stage of the study, the stage of biomarker discovery. Several hundreds of samples were analyzed genome-wide to characterize genomic and cell-free DNA methylation signatures. Specifically, 435 genomic DNA samples, and 355 cell-free DNA samples were collected and processed from 9 different types of hemato-oncological malignancies and healthy controls. These samples were analyzed for potential epigenetic biomarkers using a machine-learning-based analytical pipeline developed in the Ebenstein lab.
Preliminary results demonstrate the ability to distinguish methylation signatures between healthy controls and any of the blood cancers with sensitivity and specificity above 85%. Furthermore, the test also classifies the various disease types even at an early stage. Initial testing of the developed HemaChipa is ongoing.
Preliminary results demonstrate the ability to distinguish methylation signatures between healthy controls and any of the blood cancers with sensitivity and specificity above 85%. Furthermore, the test also classifies the various disease types even at an early stage. Initial testing of the developed HemaChipa is ongoing.
Methylation modifications were previously associated with hemato-oncological cancer development, progression, survival, and response to treatment. However, clinical use of cfDNA samples for hemato-oncological cancer detection is currently associated with low sensitivity and high sequencing costs. The SANGUINE project will potentially revolutionize patient care in the hemato-oncology space by providing an ultra-sensitive blood test at a fraction of the price.
Additionally, the SANGUINE team has generated a unique methylation dataset, characterizing methylation profiles in both genomic and cell-free DNA for the same samples. This gives us a rare opportunity to study the interplay between epigenetic modulation in the affected tissue and the response of the immune system. Such data may provide new insights into disease mechanisms and novel potential therapeutic targets.
Additionally, the SANGUINE team has generated a unique methylation dataset, characterizing methylation profiles in both genomic and cell-free DNA for the same samples. This gives us a rare opportunity to study the interplay between epigenetic modulation in the affected tissue and the response of the immune system. Such data may provide new insights into disease mechanisms and novel potential therapeutic targets.