>>Artículos

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy

2019-09-30T17:49:29+00:0030 septiembre , 2019|

The Fizzy-related protein1(Fzr1) gene encodes Cdh1protein, a coactivator of the E3 ubiquitin ligase anaphase-promoting complex/cyclosome (APC/C). Previously, we found that genetic ablation of Fzr1 promotes the death of neural progenitor cells leading to neurogenesis impairment and microcephaly in mouse. To ascertain the possible translation of these findings in humans, we searched for mutations in [...]

Precision medicine needs pioneering clinical bioinformaticians

2018-12-17T16:18:40+00:0011 octubre , 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 [...]

Training European Network: Metabolic Dysfunctions associated with pharmacological treatment of Schizophrenia. TREATMENT. GA Nr. 721236

2018-12-17T10:17:23+00:0027 junio , 2018|

07/2017 - 07/2020 Este proyecto es un consorcio en el que el objetivo, además del desarrollo del proyecto planteado, es la formación de investigadores en las diferentes disciplinas, para que cuando sea posible presenten una Tesis Doctoral. El papel de NIMGenetics en este caso será la identificación y validación clínica de biomarcadores con valor predictivo [...]

Chronic neutrophilic leukemia: a clinical perspective

2018-12-17T16:12:44+00:0022 noviembre , 2017|

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 [...]

Recommendations for the use of microarrays in prenatal diagnosis

2018-12-17T16:21:31+00:0022 noviembre , 2017|

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 [...]

Genetics applied to clinical practice in neurodevelopmental disorders

2018-12-17T16:24:09+00:0022 noviembre , 2017|

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 [...]

Guidelines for genomic array analysis in acquired haematological neoplastic disorders

2018-12-17T16:34:31+00:0022 noviembre , 2017|

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 [...]

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

2018-12-17T16:35:41+00:0022 noviembre , 2017|

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 [...]

Precision medicine needs pioneering clinical

2018-12-13T08:50:48+00:0022 noviembre , 2017|

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 [...]