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.

Collections in this community

Recent Submissions

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...

Sarcoma classification by DNA methylation profiling. 

Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological features. Therefore, the diagnosis of sarcomas is burdened with a high inter-observer var...

Revisión de los aspectos éticos en la investigación biomédica: la experiencia del Comité de Ética del Centro de Investigación sobre el Síndrome del Aceite Tóxico y Enfermedades Raras (CISATER) 

[ES] El objetivo de este artículo es dar a conocer las decisiones tomadas por el Comité de Ética del Instituto de Salud Carlos III para el Síndrome del Aceite Tóxico en relación con el desarrollo de proyectos de investigación en los que se podían utilizar muestras recogidas con anterioridad y para...

Early non-social behavioural indicators of autism spectrum disorder (ASD) in siblings at elevated likelihood for ASD: a systematic review. 

We aimed at identifying early non-social behavioural indicators that predict later ASD. Likewise, we were interested in the moment in which non-social signs discriminate between children at elevated likelihood for ASD with a later diagnosis of ASD, and children at elevated likelihood for ASD with a...

Real-World Experiences in Autistic Adult Diagnostic Services and Post-diagnostic Support and Alignment with Services Guidelines: Results from the ASDEU Study. 

Research providing an evidence-base for autistic adult services is sparse. The Autism Spectrum Disorders in the European Union (ASDEU) network implemented an on-line survey to determine gaps in autistic adult diagnostic evaluation and post-diagnostic support services. More than 55% in all groups ex...

Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors. 

The etiology and the molecular basis of lung adenocarcinomas (LuADs) in nonsmokers are currently unknown. Furthermore, the scarcity of available primary cultures continues to hamper our biological understanding of non-smoking-related lung adenocarcinomas (NSK-LuADs). We established patient-derived...

Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia. 

The development of Next-Generation Sequencing (NGS) has provided useful diagnostic, prognostic, and therapeutic strategies for individualized management of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patients. Consequently, NGS is rapidly being established in clinical practice. However,...

Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships. 

Somatic mutational mosaicism is a common feature of monogenic genetic disorders, particularly in diseases such as retinoblastoma, with high rates of de novo mutations. The detection and quantification of mosaicism is particularly relevant in these diseases, since it has important implications for g...