El Instituto de Investigación de Enfermedades Raras (IIER), forma parte de la estructura del Instituto de Salud Carlos III (ISCIII) desde noviembre de 2003 bajo la dependencia de la Subdirección General de Servicios Aplicados, Formación e Investigación. La Orden Ministerial de creación del IIER contempla un área denominada Unidad de Investigación del Síndrome del Aceite Tóxico (UISAT), aunque en la práctica funciona con tres unidades: Enfermedades Raras, Trastornos del Espectro del Autismo y Epidemiología de las enfermedades relacionadas con el ambiente, y se coordina con el Centro de Investigación en Anomalías Congénitas (CIAC) en lo referente a estas patologías. El IIER es un Centro Colaborador de la OMS en epidemiología de las enfermedades relacionadas con el ambiente, oficialmente designado por esta organización para estos fines desde el año 1996.

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CHD4 ensures stem cell lineage fidelity during skeletal muscle regeneration. 

Regeneration of skeletal muscle requires resident stem cells called satellite cells. Here, we report that the chromatin remodeler CHD4, a member of the nucleosome remodeling and deacetylase (NuRD) repressive complex, is essential for the expansion and regenerative functions of satellite cells. We s...

Therapeutic Potential of EWSR1-FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma. 

Ewing sarcoma is an aggressive bone cancer affecting children and young adults. The main molecular hallmark of Ewing sarcoma are chromosomal translocations that produce chimeric oncogenic transcription factors, the most frequent of which is the aberrant transcription factor EWSR1-FLI1. Because this...

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome. 

Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental disorder of genetic cause. So far, about 400 patients have been reported worldwide. I...

Prevention of Neural Tube Defects in Europe: A Public Health Failure. 

Objective: Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending that women take 0.4 mg folic acid before becoming pregnant and during the first ...

Hippo pathway effectors YAP1/TAZ induce an EWS-FLI1-opposing gene signature and associate with disease progression in Ewing sarcoma. 

YAP1 and TAZ (WWTR1) oncoproteins are the final transducers of the Hippo tumor suppressor pathway. Deregulation of the pathway leads to YAP1/TAZ activation fostering tumorigenesis in multiple malignant tumor types, including sarcoma. However, oncogenic mutations within the core components of the Hi...

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. 

Serine biosynthesis disorders comprise a spectrum of very rare autosomal recessive inborn errors of metabolism with wide phenotypic variability. Neu-Laxova syndrome represents the most severe expression and is characterized by multiple congenital anomalies and pre- or perinatal lethality. Here, we ...

EWS-FLI1 impairs aryl hydrocarbon receptor activation by blocking tryptophan breakdown via the kynurenine pathway. 

Ewing sarcoma (ES) is an aggressive pediatric tumor driven by the fusion protein EWS-FLI1. We report that EWS-FLI1 suppresses TDO2-mediated tryptophan (TRP) breakdown in ES cells. Gene expression and metabolite analyses reveal an EWS-FLI1-dependent regulation of TRP metabolism. TRP consumption incr...

Development of Macrocycle Kinase Inhibitors for ALK2 Using Fibrodysplasia Ossificans Progressiva-Derived Endothelial Cells. 

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare congenital form of heterotopic ossification (HO), caused by heterozygous mutations in the activin A type I receptor (ACVR1), that encodes the bone morphogenetic protein (BMP) type I receptor ALK2. These mutations enable ALK2 to induce...

Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project 

The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey desi...

Polymerization of misfolded Z alpha-1antitrypin protein lowers CX3CR1 expression in human PBMCs. 

The CX3CR1 (chemokine (C-X3-C motif) receptor 1) expression levels on immune cells have significant importance in maintaining tissue homeostasis under physiological and pathological conditions. The factors implicated in the regulation of CX3CR1 and its specific ligand CX3CL1 (fractalkine) expressio...

Screening for autism spectrum disorders: state of the art in Europe. 

A large number of studies have reported on the validity of autism spectrum disorder (ASD) screening procedures. An overall understanding of these studies' findings cannot be based solely on the level of internal validity of each, since screening instruments might perform differently according to ce...

Role of Chromodomain-Helicase-DNA-Binding Protein 4 (CHD4) in Breast Cancer. 

Chromodomain-helicase-DNA-binding protein 4 (CHD4) is an epigenetic regulator identified as an oncogenic element that may provide a novel therapeutic target for the treatment of breast cancer (BC). CHD4-the core component of the nucleosome remodeling and deacetylase (NuRD) complex-may be mutated in...

RGB-Marking to Identify Patterns of Selection and Neutral Evolution in Human Osteosarcoma Models. 

Osteosarcoma (OS) is a highly aggressive tumor characterized by malignant cells producing pathologic bone; the disease presents a natural tendency to metastasize. Genetic studies indicate that the OS genome is extremely complex, presenting signs of macro-evolution, and linear and branched patterns ...

La Red de investigación 'infancia y medio ambiente (Red INMA)": protocolo de estudio. 

[ES] Cada vez existe mayor evidencia de la influencia de la dieta y dela exposición a dosis bajas de tóxicos durante la etapa prenatal y primera infancia sobre la salud y el bienestar en etapas posteriores de lavida. Siguiendo las recomendaciones de la OMS y de la Unión Europea en el año 2003 se co...

Enfermedades raras: enfermedades crónicas que requieren un nuevo enfoque sociosanitario 

[ES] El concepto de Enfermedades Raras es relativamente nuevo. Suponen aquellos procesos que pueden ser mortales o provocar un debilitamiento crónico del paciente y que, debido a su escasa prevalencia, requieren esfuerzos combinados para tratarlas. A título indicativo, se considera una prevalencia ...

Sarcoma treatment in the era of molecular medicine. 

Sarcomas are heterogeneous and clinically challenging soft tissue and bone cancers. Although constituting only 1% of all human malignancies, sarcomas represent the second most common type of solid tumors in children and adolescents and comprise an important group of secondary malignancies. More tha...

Cost-of-illness studies in rare diseases: a scoping review 

Objective: The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases. Methods: We searched papers published in English in PubMed from January 2007 to December 2018. We selected cost-of-illness studies on rare diseases defined as those with prevalence l...

Combination immunotherapy using G-CSF and oncolytic virotherapy reduces tumor growth in osteosarcoma. 

Osteosarcoma is the most common malignant solid tumor that affects bones, however, survival rates of patients with relapsed osteosarcoma have not improved in the last 30 years. Oncolytic virotherapy, which uses viruses designed to selectively replicate in cancer cells, has emerged as a promising tr...

Humoral responses to SARS-CoV-2 by healthy and sick dogs during the COVID-19 pandemic in Spain. 

COVID-19 is a zoonotic disease caused by SARS-CoV-2. Infections of animals with SARS-CoV-2 have recently been reported, and an increase of severe lung pathologies in domestic dogs has also been detected by veterinarians in Spain. Therefore, further descriptions of the pathological processes in thos...

Métodos para la evaluación económica de programas de cribado neonatal. 

[ES] Los programas de cribado neonatal son una herramienta fun-damental para la prevención secundaria o detección presintomáti-ca de determinadas afecciones. La implantación de un programa de cribado neonatal requiere necesariamente de una evaluación de su efectividad, seguridad, coste-efe...