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So far DevGobalo has created 51 blog entries.

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 [...]

Precision medicine needs pioneering clinical bioinformaticians

2018-12-17T16:17:45+01:0011 October , 2018|

Success in precision medicine depends on accessing high-quality genetic and molecular data from large, well-annotated patient cohorts that couple biological samples to comprehensive clinical data, which in conjunction can lead to effective therapies. From such a scenario emerges the need for a new professional profile, an expert bioinformatician with training in clinical areas who can [...]

Precision medicine needs pioneering clinical

2018-12-17T10:36:50+01:0017 September , 2018|

Success in precision medicine depends on accessing high-quality genetic and molecular data from large, well-annotated patient cohorts that couple biological samples to comprehensive clinical data, which in conjunction can lead to effective therapies.   Success in precision medicine depends on accessing high-quality genetic and molecular data from large, well-annotated patient cohorts that couple biological samples [...]

Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture

2018-12-17T16:35:48+01:0017 September , 2018|

Familial predisposition is among the major genetic risk factors for non-contact musculoskeletal tissue injuries. Personal genome sequence shows that different polymorphism profiles may account for the number and the degree of injuries and the recovery time. Familial predisposition is among the major genetic risk factors for non-contact musculoskeletal tissue injuries. Personal genome sequence shows that [...]

Guidelines for genomic array analysis in acquired haematological neoplastic disorders

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

Genetic profiling is important for disease evaluation and prediction of prognosis or responsiveness to therapy in neoplasia. Microarray technologies, including array comparative genomic hybridization and single-nucleotide polymorphism-detecting arrays, have in recent years been introduced into the diagnostic setting for specific types of haematological malignancies and solid tumours. Genetic profiling is important for disease evaluation and [...]

Genetics applied to clinical practice in neurodevelopmental disorders

2018-12-17T16:23:39+01:0017 September , 2018|

The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost- effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray studies display greater diagnostic power than conventional [...]

Recommendations for the use of microarrays in prenatal diagnosis

2018-12-17T16:21:12+01:0017 September , 2018|

Microarray technology, recently implemented in international prenatal diagnosis systems, has become one of the main techniques in this field in terms of detection rate and objectivity of the results. This guideline attempts to provide background information on this technology, including technical and diagnostic aspects to be considered. Microarray technology, recently implemented in international prenatal diagnosis [...]

Chronic neutrophilic leukemia: a clinical perspective

2018-12-17T16:19:37+01:0017 September , 2018|

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) that includes only 150 patients described to date meeting the latest World Health Organization (WHO) criteria and the recently reported CSF3R mutations. Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) that includes only 150 patients described to date meeting the latest World Health [...]

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