Hola,
¿eres nuevo aquí?

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

Tengo cuenta

Regístrate

Ver video

MACULA

Financiado

Cerrado

Closing in on missing heritability and immune dysregulation in macular degenerat...

Closing in on missing heritability and immune dysregulation in macular degeneration Age-related macular degeneration (AMD) is the most common cause of irreversible blindness in the Western world. AMD has a strong genetic component, and it has been estimated that 50% of the heritability of AMD is explained by comm... ver más

31/12/2017

STICHTING RADBOUD...

1M€

Presupuesto del proyecto: 1M€

Líder del proyecto

STICHTING RADBOUD UNIVERSITEIT No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Fecha límite participación Sin fecha límite de participación.

Financiación concedida El organismo FP7 notifico la concesión del proyecto el día 2017-12-31 No tenemos la información de la convocatoria

0% 100% 100%

Información adicional privada

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

1 Participantes

STICHTING RADBOUD UNIVERSITE...

0.00€ | Lider

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

Proyectos interesantes

EYE-RISK Exploring the combined role of genetic and non genetic facto... 6M€ Cerrado

SAF2009-08079 GENOMICA FUNCIONAL PARA EL ESTUDIO DE LA RETINOSIS PIGMENTAR... 240K€ Cerrado

BFU2016-80583-R BUSQUEDA DE DIANAS TERAPEUTICAS PARA LAS DISTROFIAS HEREDITA... 133K€ Cerrado

AMD BIOMARKERS Biomarkers in age related macular degeneration 171K€ Cerrado

PDC2022-133960-I00 DESARROLLO DE UNA POTENCIAL TERAPIA INMUNOMODULADORA PARA LA... 150K€ Cerrado

PID2019-109506RB-I00 EXPLORANDO EL PAPEL DE LA INMUNIDAD INNATA EN LA RETINOSIS P... 119K€ Cerrado

Líder del proyecto

STICHTING RADBOUD UNIVERSITEIT No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Presupuesto del proyecto 1M€

Fecha límite de participación Sin fecha límite de participación.

Descripción del proyecto Age-related macular degeneration (AMD) is the most common cause of irreversible blindness in the Western world. AMD has a strong genetic component, and it has been estimated that 50% of the heritability of AMD is explained by common variants in the complement system. Currently the first genetic tests based on a small number of common variants are being marketed, and new treatment modalities are being developed targeted to inhibit complement activation in AMD. However, genetic tests are not likely to be reliable since 50% of the heritability is still unexplained. In addition, studies by my group indicate that complement activation does not play a role in all AMD patients, so they will likely not benefit from treatments inhibiting the complement system. The goal of this proposal is to explain the missing heritability in AMD, and to better understand the pathogenic mechanisms underlying the disease. So far the role of rare variants in AMD has been neglected. Based on recent results from my group I hypothesize that a large proportion of the missing heritability in AMD is explained by rare, highly penetrant variants in genes that have not yet been associated with AMD. The first key objective of this proposal is to define the role of rare, highly penetrant variants in AMD. I also hypothesize that not only the complement system, but instead a generalized dysregulation of the immune system underlies the pathogenesis of AMD in certain subgroups of patients. The second key objective of this proposal is to understand the pathogenic mechanisms of immune system defects in AMD patients. The detection of rare genetic variants in the pathogenesis of AMD will allow a more accurate genetic risk assessment, enabling preventive measures in individuals at high risk. It will also provide more insight into the mechanisms that are involved in the pathogenesis of AMD, and will enable us to develop new therapeutic options for the diseases.

Conecta tu I+D

Entra hoy

¿Olvidé mi contraseña?

Financiación

Empresas

CTIs/Universidades

Proyectos

Investigadores