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Precision medicine approach to rare vascular malformations to enhance understanding, diagnostics and therapy

Project description

Tailored therapy of vascular malformations

Vascular malformations include blood vessel anomalies and lesions that present at birth and include birthmarks such as port-wines. Some of these conditions may require surgery and/or pharmacological treatment to avoid any impact on tissues and organs. However, lack of reliable diagnostic and classification tools impede treatment response and may lead to drug side effects. Funded by the European Research Council, the PREVENT project proposes to generate a tailored strategy for the diagnosis of vascular malformations to prevent disease progression and improve clinical outcome. Researchers will follow a multidisciplinary approach that combines AI for histological classification, genomic analysis, and drug screening on patient cells.

Objective

Vascular malformations are clinically very heterogeneous ranging from small local birthmarks to life-threatening entities affecting entire limbs, organs or larger parts of the human body. Often, these conditions require surgical and/or pharmacological intervention to prevent further disease progression and to increase patients quality of life. Therefore, an accurate diagnosis is crucial for appropriate treatment and management. However, our current knowledge on vascular malformations is very limited, making diagnosis and treatment very difficult due to: 1) An inadequate understanding of the underlying histological alterations causing the phenotype. 2) Very limited genetic diagnostic testing, which in most cases does not allow a confirmed molecular diagnosis. 3) Poor curative surgical and pharmacological treatment approaches. As the current pharmacological therapy regimen with drugs from oncology or transplantation medicine is more like a try & error than a precision medicine approach, there is a high risk of drug side effects and non-response to therapy and thus progression of the disease. I want to tackle these obstacles with a multidisciplinary approach to precision medicine for vascular malformations to prevent disease progression and improve patient outcomes. Therefore,my proposed workflow provides: 1) A novel histological classification based on deep phenotyping using diagnostic AI-assisted 3D-Histology, 2) Improved diagnostic testing through analysis of the coding and non-coding genome using state-of-the-art sequencing techniques and bioinformatics tools, and 3) Patient-tailored pharmacological treatments based on FDA-approved drug sub-library screenings tested on the patient-derived cells using state-of-the-art imaging techniques. This innovative approach to precision medicine has the great potential to transform clinical practice and provide for the very first time state-of-the-art diagnosis and treatment for patients with vascular malformations.

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HORIZON-ERC - HORIZON ERC Grants

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Call for proposal

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(opens in new window) ERC-2022-STG

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Host institution

CHARITE - UNIVERSITAETSMEDIZIN BERLIN
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.

€ 1 498 316,00
Address
Chariteplatz 1
10117 Berlin
Germany

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Region
Berlin Berlin Berlin
Activity type
Higher or Secondary Education Establishments
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Total cost

The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.

€ 1 498 316,00

Beneficiaries (1)

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