ITACA Research Project

2019-06-14T14:59:38+02:0013 June , 2019|

The ITACA (Investigación Traslacional de Arritmias Cardiacas Hereditarias / Hereditary Cardiac Arrhythmias Translational Research) Research Project, funded by the Madrid Regional Government (B2017/BMS-3738), is coordinated by the cellular cardiac electrophysiology group of the Complutense University of Madrid Medical School. ITACA includes clinical researchers from the Cardiology Department of La Paz, Puerta de Hierro, Gregorio Marañón, [...]

IN2Diagnosis, Intelligent data integration to enable knowledge based genetic Diagnosis.

2018-12-17T16:55:00+01:0012 December , 2018|

H2020-INNOSUP-1-2015-PERMIDES NIMGenetics has received funding from the EU, through the call H2020-INNOSUP-1-2015-PERMIDES (Personalised Medicine Innovation through Digital Enterprise Solutions), to develop the project IN2Diagnosis, which has the purpose of creating a database that will contain the information from thousands of patients analysed in NIMGenetics, improving the management of the genetic information produced. NIMGenetics' value proposal [...]

TREATMENT, Metabolic Dysfunctions associated with pharmacological treatment of Schizophrenia.

2018-12-17T16:55:09+01:0012 December , 2018|

H2020-MSCA-ITN-2016 TREATMENT is an European project in consortium in which NIMGenetics participates to carry out the identification and clinical validation of biomarkers with predictive value for metabolic complications associated with drug treatments for schizophrenia. The consortium is structured as an ITN -Innovative Training Network- with the purpose of training new generations of researchers capable of [...]

Array CGH chips for prenatal diagnosis

2018-12-17T16:55:18+01:0030 November , 2018|

NEOTEC 2008 Call. CDTI6 It is the first project developed by NIMGenetics after its creation, and is focused on prenatal diagnosis by using array CGH technology. The development of the project enabled the market launch of KaryoNIM® Prenatal, capable of detecting, at that time, the 90 main foetal chromosomopathies in a single genetic test. The [...]

Development and validation of a non-invasive prenatal diagnostic test for severe genetic syndromes

2018-12-17T16:55:36+01:0017 September , 2018|

Individual Development Project. CDTI 2014 NIMGenetics relied on the non-invasive prenatal test, developing and launching TrisoNIM®, which uses massive next-generation sequencing technology and applies the NIFTY® analysis algorithm. This CDTI-funded project made it possible to move forward in the non-invasive prenatal test development, resulting in TrisoNIM® Advance, which detects trisomies 21, 13 and 18, as [...]

Design and application of array CGH chips to diagnose genetic diseases associated with mental and psychomotor retardation and dysmorphias

2018-12-17T16:56:15+01:0017 September , 2018|

Torres Quevedo Programme 2011. MINECO This project focused on postnatal diagnosis using array CGH technology. The development of the project enabled the technical validation of the platform, in key aspects such as reproducibility and reliability of the diagnosis, thus making clinical decisions easier. The result was KaryoNIM® Postnatal, a diagnostic platform with an ISO 15189 [...]

Development of diagnostic platforms based on exome sequencing for neuropediatric diseases.

2018-12-17T16:56:20+01:0017 September , 2018|

Torres Quevedo Programme 2013. MINECO After many developments based on array CGH technology, NIMGenetics takes a technological leap, implementing massive sequencing. This project represents the development of ExoNIM®, a complete exome sequencing platform for the genetic diagnosis of neuropediatric diseases, especially focused on identifying the genetic causes of syndromic and non-syndromic intellectual disability. NIMGenetics complements [...]

Implementation of genetic diagnosis based on exome sequencing in clinical practice.

2018-12-17T16:56:29+01:0017 September , 2018|

Industrial Doctorate Programme 2014. MINECO NIMGenetics is not only committed to innovation, but also to quality education. For this reason, it promotes Industrial Doctorates to be obtained. This project proposes the development and validation of tools that enable the implementation of exome sequencing data in clinical practice. This exome analysis system has a clearly innovative [...]

Development of a genetic diagnostic tool based on the analysis of whole exome sequencing (WES) aimed at the study of epilepsy.

2018-12-17T16:56:34+01:0017 September , 2018|

Torres Quevedo Programme 2015. MINECO ExoNIM® Plus Epilepsy is the result of this project and represents a technological combination tool (exomes, panels, and Sanger sequencing), optimised to detect mutations and CNVs in samples of patients suffering from epilepsy, creating an extraordinary improvement in the identification of the genetic causes of these pathologies, resulting in a [...]

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