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Differential Diagnosis of Autoimmune Hepatitis by cfChIP-seq Liquid Biopsy

Project description

DNA-based liquid biopsy for liver pathology diagnosis

Accurate identification of the causes of liver disorders is crucial for effective treatment. However, differentiating between autoimmune hepatitis, drug-induced liver damage, and other non-viral liver diseases remains challenging. Diagnosis of autoimmune hepatitis typically involves a combination of blood tests for specific autoantibodies, liver function tests, and often liver biopsy to confirm the presence of inflammation and autoimmune activity. The key objective of the ERC-funded AIHLiquidBiopsy project is to replace invasive liver biopsies with a minimally invasive liquid biopsy. The proposed technology will analyse epigenetic marks in cell-free DNA from blood samples. This will allow the mapping of genome-wide gene activity associated with liver damage and the differential diagnosis of liver pathologies.

Objective

The identification of the causative agent and mechanism of liver disorders is essential for effective treatment. The diagnostic challenge is differentiating autoimmune hepatitis, drug induced liver damage, and other non-viral causes of liver disease. Current diagnostic guidelines require in many cases liver biopsy followed by monitoring response to treatment before conclusive diagnosis. Our objective is to replace liver biopsy in the parenchymal liver disease settings with a minimally invasive liquid biopsy from a blood sample.

We have developed cfChIP-seq, a liquid biopsy that enables detection of gene activity in the cells contributing to cell-free DNA. Cell-free DNA is mostly chromatin fragments DNA-protein complexes. These carry post-translational epigenetic marks that are closely connected to gene regulation and activity in the cell of origin. By capturing fragments marked with active transcription and sequencing their DNA, we map genome-wide activity of genes in the cells contributing to circulating cell-free DNA.

Liver damage results in increased contribution of liver cells to circulating cell-free DNA. Moreover, our preliminary results show that we can detect differences in the cfChIP-seq signal from different liver pathologies and that these differences involve genes associated with the relevant liver damage mechanisms.

We plan to develop methods for differential diagnosis of autoimmune liver diseases such as autoimmune hepatitis and other parenchymal liver diseases. This will be supplemented by a multi-center cohort of patients to train and validate these tools. Together these will establish a pre-clinical evaluation of the capabilities of the assay in differential diagnosis and enable development of a product that would change the way we diagnose these diseases. This product will improve the quality of diagnosis, reduce the number of liver biopsies, risk to patients and costs, and provide more detailed follow-up during treatment.

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HORIZON-ERC-POC - HORIZON ERC Proof of Concept Grants

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Call for proposal

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(opens in new window) ERC-2024-POC

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Host institution

THE HEBREW UNIVERSITY OF JERUSALEM
Net EU contribution

Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.

€ 150 000,00
Address
EDMOND J SAFRA CAMPUS GIVAT RAM
91904 JERUSALEM
Israel

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Activity type
Higher or Secondary Education Establishments
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Total cost

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Beneficiaries (1)

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