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Precision medicine approach to rare vascular malformations to enhance understand...

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

31/03/2028

CHARITE UNIVERSIT...

1M€

Presupuesto del proyecto: 1M€

Líder del proyecto

CHARITE UNIVERSITAETSMEDIZIN BERLIN No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Financiación concedida El organismo HORIZON EUROPE notifico la concesión del proyecto el día 2023-01-23

ERC-2022-STG: ERC STARTING GRANTS Scope:Objectives

I+D

Cerrada hace 2 años

0% 100% 100%

Información adicional privada

No hay información privada compartida para este proyecto. Habla con el coordinador.

1 Participantes

CHARITE UNIVERSITAETSMEDIZI...

1.50M€ | Lider

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Duración del proyecto: 62 meses Fecha Inicio: 2023-01-23
Fecha Fin: 2028-03-31

Líder del proyecto

CHARITE UNIVERSITAETSMEDIZIN BERLIN No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Presupuesto del proyecto 1M€

Descripción del proyecto 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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