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Projects. Life and Matter Sciences

A knowledge-based pipeline to increase the diagnosis rate of Rare Diseases using deep sequencing.

Lead Researcher: Carmen Ayuso García
Research Centre: IIS- FJD (Biomedical Research Institute -Fundación Jiménez Díaz)


Carmen Ayuso García The application of the Next Generation Sequencing (NGS) techniques into the field of Rare Diseases (RD) is producing an increase in their detection rate in patients, as well as a huge impact in the discovery of new genes and mutations involved. A continuous fall in their costs and the special nature of this type of disorders, with many genes affected, have precipitated their implementation as diagnosis techniques. The analysis of the data produced by NGS is a novel and active field in continuous growth. To take advantage of these new developments that augment the detection of RD positive cases, we need a constant integration of new methods into the NGS analysis pipelines. However, there are neither commercial products nor standard protocols that facilitate this implementation.

The present project proposes the development of a customized and flexible NGS pipeline with a knowledge-based database attached that will guarantee an improvement in the diagnosis of retinal dystrophies, eye developmental diseases, monogenic heart diseases and hereditary cancers. The big-data produced by the diagnostic routines will be the input of Systems biology inspired studies that will explore the molecular basis underneath the miss-function caused by the mutations in the implicated genes.

We will also propose new candidate mutations by their location inside protein functional regions and new candidate genes by their role in the human interactome. Our developments will be subject to be exported to other types of rare diseases.

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