In general, the growing participation of CNAG - CRG in
rare disease research projects is clear in terms of samples sequenced; while during the period 2014/2015 the total number of processed samples related to rare diseases was of 523 in the period 2016/2017 the number of these samples increased to more than 1600.
Not exact matches
Investigating mouse models for biological for
research The congress aims to promote the International Mouse Phenotyping Consortium (IMPC) mouse lines, importance of mouse phenotyping & clinical and drug discovery collaboration, to present progresses performed by IMPC with regards CRISPR editing genome,
rare diseases, microbiota and ageing pipeline, as well as illustration of examples of scientific
projects about «Animal models for human
diseases» and recent developments in mouse models phenotyping imaging.
The French Foundation for
rare diseases (Fondation des maladies
rares), in partnership with TEFOR infrastructure, launches its first call for
research projects «Small animal models and
rare diseases».
European Journal of Human Genetics has published a key publication describing the achievements of three flagship EU - funded
projects — RD - Connect, NeurOmics and EURenOmics — and how they are shaping the
rare disease research environment in Europe and globally.
This tool is one of the main outcomes of RD - Connect, the EU - funded
project that has built a community of patients, clinicians, researchers and bioinformaticians in Europe and beyond, and has advanced collaboration and data sharing to facilitate and accelerate
research for
rare diseases.
More recently, in a joint initiative with the BBMRI - LPC
project (Biobanking and Biomolecular Resources
Research Infrastructure — Large Prospective Cohorts) and the Wellcome Trust Sanger Institute, the CNAG - CRG launched a call to promote the use of sequencing technologies for the identification of novel causative variants and genes and to molecularly diagnose
rare disease patients.
Next to performing Joint Transnational Calls and assessment of the funding mechanisms and results of the funded
research projects the E-
Rare-1 and E-
Rare-2 programmes paid attention to deepening the cooperation and coordination among the E-
Rare partners by systematic exchange of information on the national programmes and by strategic activities aimed at a sustainable development and extension of the network of
rare disease research funders.
Project Violet's breakthrough
research is inspired by kids with
rare or incurable
diseases — and is powered by people like you.
The successful linking of
research funding organizations in E-
Rare-1 and the subsequent exemplary joint funding activities have attested the need of, and the acknowledgment from, the
research community for transnational funding of collaborative, multidisciplinary and ambitious
projects on
rare diseases.
Funded as part of the EU's commitment to the International
Rare Diseases Research Consortium (IRDiRC), RD - Connect is a global infrastructure project that links omics data with databases, registries, biobanks, and clinical bioinformatics tools into a central research resource for rare disea
Rare Diseases Research Consortium (IRDiRC), RD - Connect is a global infrastructure project that links omics data with databases, registries, biobanks, and clinical bioinformatics tools into a central research resource for rare d
Research Consortium (IRDiRC), RD - Connect is a global infrastructure
project that links omics data with databases, registries, biobanks, and clinical bioinformatics tools into a central
research resource for rare d
research resource for
rare disea
rare diseases.
GENYO is the first national centre devoted to genomics that integrates the Public Administration, the University and the biotechnology and pharmaceutical business sector, which would allow the integration of
research in all its phases, from the generation of knowledge to its development in clinical and pharmaceutical applications, the development of new
projects and services for the prevention, diagnosis and treatment of
diseases associated to human genetic variability, such a cancer and
rare diseases, diabetes, hypertension or degenerative
diseases, among others.
During her fellowship, Dr. Vishkautsan, subspecialized in treating complex, both common and
rare infectious
diseases of dogs and cats and completed a
research project on use of anti-fungal drugs in cats.