Hola,
¿eres nuevo aquí?

Regístrate gratis y conecta tu empresa con financiación pública, partners y proyectos.

Tengo cuenta

Regístrate

Ver video

INNERVATE

Financiado

Cerrado

Investigating the functional impact of neurodegeneration causing rare variants i...

Investigating the functional impact of neurodegeneration causing rare variants in the teleost model zebrafish Circa 30 million people in Europe suffer from life-threatening rare diseases, which are poorly understood. This major societal burden forces patients into endless paths for a diagnosis often without cure. EU cooperation efforts be... ver más

30/04/2022

FONDAZIONE WWF MED...

183K€

Presupuesto del proyecto: 183K€

Líder del proyecto

FONDAZIONE WWF MEDITERRANEAN No se ha especificado una descripción o un objeto social para esta compañía.

Fecha límite participación Sin fecha límite de participación.

Financiación concedida El organismo H2020 notifico la concesión del proyecto el día 2022-04-30

MSCA-IF-2018: Individual Fellowships

I+D

Cerrada hace 6 años

0% 100% 100%

Información adicional privada

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

1 Participantes

FONDAZIONE WWF MEDITERRANEAN

183.47K€ | Lider

Proyectos interesantes

HUNTINFISH

Medical Technol...

Data Science

183K€ Cerrado

ZEBRAFISH MYELIN

Medical Technol...

Applied Physics

100K€ Cerrado

CMTaaRS

Medical Technol...

Applied Physics

2M€ Cerrado

PID2019-110952GB-I00

Medical Technol...

Applied Physics

109K€ Cerrado

NeuroFish

Medical Technol...

Applied Physics

2M€ Cerrado

ZebraZoom

Medical Technol...

Data Science

150K€ Cerrado

Conecta tu I+D

¿Tienes un proyecto y buscas un partner? Gracias a nuestro motor inteligente podemos recomendarte los mejores socios y ponerte en contacto con ellos. Te lo explicamos en este video

Duración del proyecto: 35 meses Fecha Inicio: 2019-05-07
Fecha Fin: 2022-04-30

Líder del proyecto

FONDAZIONE WWF MEDITERRANEAN No se ha especificado una descripción o un objeto social para esta compañía.

Presupuesto del proyecto 183K€

Fecha límite de participación Sin fecha límite de participación.

Descripción del proyecto Circa 30 million people in Europe suffer from life-threatening rare diseases, which are poorly understood. This major societal burden forces patients into endless paths for a diagnosis often without cure. EU cooperation efforts between countries contribute to improve research and visibility of these diseases with a primary role of the ‘Ospedale pediatrico Bambino Gesù’ (OPBG, Italy). Here, via next generation sequencing technology, Dr. Tartaglia recently described new genetic variants, including some in the tubulin cofactors TBCE and TBCD which alter microtubules (MTs) dynamics (crucial for brain development and maintenance) and cause previously undescribed early onset neurodegeneration. Yet the underlying pathogenic mechanisms and impact on the brain physiology remain elusive. Given the difficulty to reproduce brain physiology in vitro and its general inaccessibility, a vertebrate model amenable to genetic and whole-brain in vivo investigation is necessary. With its rapid and transparent development and genetic and imaging tools improving continuously, the small teleost fish zebrafish is ideal. I will monitor live MTs behaviour and cellular processes (e.g. cell division, axons formation and innervation) in the precursor and mature neurons of zebrafish TBCE and TBCD mutants, focusing on motoneurons. To this aim, I will combine my expertise in fish neurobiology with the host’skills in human genetics (Dr. Tartaglia) and fish gene editing (Dr. Del Bene, France). In line with the current EU efforts, this work will advance our understanding on rare genetic variants causing neurodegeneration. Deciphering the role of MTs dynamics on brain physiology will be relevant also for common brain disorders and exome sequencing of undiagnosed patients will further contribute to a genotype-phenotype catalog. Via an intensive transfer of knowledge, the project will increase EU multi-disciplinary competence on rare disorders in general, providing new models for therapy development.

Conecta tu I+D

Entra hoy

¿Olvidé mi contraseña?

Financiación

Empresas

CTIs/Universidades

Proyectos

Investigadores