Shortening the path to Rare Disease diagnosis by using newborn genetic screening and digital technologies (2nd stage)

Estado

Pendent de resolució

Área gestora

Oficina de Projectes Internacionals

Entidad convocante

No aplica

Programa

IMI2 - Innovative Medicines Initiative 2016

Área temática

No aplica

Tipo de ayuda

PJE_Projectes Europeus

Destinatarios

  • Grups de Recerca (GRU)
  • Investigadors/es (INV)

Descripción

Approximately 5,000-8,000 distinct rare diseases (RD) affect 6-8% of the EU population i.e. between 27 and 36 million people; 263-446 million people are affected globall. Despite scientific advances, in Europe, the fact remains that fewer than 10% of RD patients receive treatment and only 1% are managed using an approved treatment. Delivering effective treatments to RD patients where the prevalence is low has been described as one of the major global health challenges of the 21st century. One of the main challenges for RDs is related to diagnosis because RDs are characterised by a broad diversity of syndromic disorders and symptoms that vary from disease to disease and from patient to patient suffering from the same disease. In isolation, these symptoms can be very common, leading to misdiagnosis. Altogether, this leads to a lengthy and burdensome path to diagnosis that can take, on average, take eight years, often involving pointless treatments, creating a heavy human and societal burden that could be avoided by earlier diagnosis.

Bases de la convocatoria

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Web con más información

Consultar web

Fecha de publicación

23/06/2020

Fecha de inicio de solicitudes

23/06/2020

Fecha de presentación en la UAB

No aplica

Fecha de fin de solicitudes en el Organismo convocante

17/03/2021

Fecha de resolución prevista

17/08/2021

Resolución

No aplica