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Personalized prognosis in smoldering myeloma through automated analysis of mutational signatures

Project description

Affordable tool for early detection of multiple myeloma

Multiple myeloma (MM) is the second most common blood cancer and often goes undetected until the late stages of progression. By the time symptoms appear, treatment options are limited, and long-term survival rates are poor. Although next-generation DNA sequencing (NGS) has provided insights into disease progression, it is not yet used in clinical settings for prognosis. Current research methods are too costly due to the large genomic regions they require for analysis. The ERC-funded MYELOMA-RISK project aims to develop a low-cost bioinformatics tool to identify key mutation signatures, enabling early diagnosis, disease monitoring, and identification of high-risk patients, potentially improving treatment outcomes.

Objective

Multiple myeloma (MM) is the second most common haematological cancer which is symptomless until the later stages, with few treatment options and poor long-term prognoses. Next-generation DNA sequencing (NGS) has been used to identify and characterise the process of clonal evolution and disease progression in asymptomatic MM, however, there remains no viable prognostic NGS method which can be used by clinicians to leverage different mutations to predict progression. The scientific literature indicates the methods under research utilise large genomic regions and significant coverage in sequencing that would result in prohibitively high costs of testing if applied to the clinical domain. The aim of this PoC project is to develop a complete, low-cost prognostic bioinformatics tool able to characterise the driver mutation signatures of MM in order to allow early diagnosis, monitor progression and potentially identify at risk patients that may benefit from early treatment to improve outcomes.

Fields of science (EuroSciVoc)

Programme(s)

Topic(s)

Funding Scheme

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

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Call for proposal

(opens in new window) ERC-2023-POC

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Host institution

UNIVERSITA DEGLI STUDI DI MILANO
Net EU contribution
€ 75 000,00
Address
Via Festa Del Perdono 7
20122 Milano
Italy
Region
Nord-Ovest Lombardia Milano
Activity type
Higher or Secondary Education Establishments
Links
Total cost
No data

Beneficiaries (2)