Centre for Biomedical Network Research on Rare Diseases

The Blastocystis Biobank: a curated, multi-host biological resource of cultures, nucleic acids, metabolites, and stool-derived aliquots with a controlled-access virtual catalogue for global research

Background Blastocystis is among the most prevalent gut-associated microbial eukaryotes in humans and animals worldwide, yet reproducible cross-laboratory research remains hampered by the absence of widely accessible, well-annotated reference materials. Subtype (ST) diversity spa...

A GPRC5B–Fyn signaling axis regulates VRAC activity by targeting LRRC8A

The mechanisms by which physiological signals gate the volume-regulated anion channel (VRAC) remain poorly understood. Here, we identify a GPRC5B–Fyn signaling axis that directly controls VRAC activation by targeting the essential subunit LRRC8A. We found that the orphan G protei...

Pediatric Infectious Encephalitis in Spain

BACKGROUND: Pediatric infectious encephalitis remains a significant cause of neurologic morbidity. Prompt antiviral treatment is recommended in patients with suspected herpes simplex virus (HSV) encephalitis. This study aimed to describe the epidemiology and outcomes of infectiou...

The NBGENS project protocol: Pilot study for genetic newborn screening in Galicia

Background Conventional newborn screening (NBS) relies on mainly biochemical assays and remains limited by its dependence on detectable biomarkers within a narrow postnatal window, leaving many treatable genetic disorders unidentified. Advances in next-generation sequencing have...

Cortical and metabolic brain development during pubertal hormone suppression

Suppression of pubertal hormonal signaling may alter trajectories of cortical development. However, the neurobiological effects of gonadotropin-releasing hormone agonists (GnRHa), including triptorelin, which are used in adolescents with gender dysphoria, remain largely unresolve...

Comparative analysis of maternal diet and its individual compounds in pregnancies with and without preeclampsia

Maternal diet during pregnancy may influence maternofoetal outcomes, including the occurrence of preeclampsia. The objective was to assess the association of maternal adherence to a Mediterranean diet pattern with preeclampsia, and the correlation with surrogate makers of the dis...

Integrating genetics in the clinical care of patients with fibrotic interstitial lung diseases helps in diagnosis and predicting progression

Growing evidence suggests genetic basis in familial and other types of fibrotic interstitial lung disease (ILD). Genetics may improve diagnostic accuracy and risk stratification. The objective was to evaluate the utility of integrating genetic data into ILD clinical practice. A r...

Mapping the evidence on interventions to reduce potentially inappropriate prescriptions in older adults: a scoping overview of 127 systematic reviews

Potentially inappropriate prescriptions (PIPs) are highly prevalent among older adults and associated with adverse outcomes, including hospitalisations and mortality. Numerous interventions have been evaluated and synthesised in reviews, but the review-level evidence remains hete...

Genome-wide analysis of social behaviour across social domains, reporters and developmental stages: a meta-regression approach

Abstract Social behaviour is a heritable trait linked to well-being and mental health, yet it varies across social context, including social domains, informants and development, which may shape its underlying genomic architecture. Here, we conducted a genome-wide meta-regression...

Territorial inequities in access to essential medicines for neglected tropical diseases in a decentralised European health system: a nationwide assessment in Spain

Abstract Background Neglected tropical diseases (NTDs) represent an increasing but often overlooked challenge for European health systems owing to international mobility, migration, travel, and climate-related changes in disease ecology. Although effective treatments exist for mo...

CNS distribution and preclinical activity of the PI3K/AKT inhibitors inavolisib and ipatasertib in pediatric-type diffuse high-grade gliomas

Abstract Purpose Pediatric-type diffuse high-grade gliomas (pHGG) are aggressive, largely incurable malignancies often characterized by PI3K/AKT pathway activation. This study investigated whether the PI3K inhibitor inavolisib and the AKT inhibitor ipatasertib could achieve thera...

B7-H6 orchestrates oncogenic signaling and represents a therapeutic vulnerability in metastatic clear cell renal cell carcinoma

B7-H6 (NCR3LG1) is an immune checkpoint protein belonging to the B7 family of immunomodulatory proteins and serves as a ligand for the natural cytotoxicity triggering receptor NKp30 (NCR3) expressed on natural killer (NK) cells. In addition to its extracellular immunomodulatory d...

INPP5E interactome reveals novel connections to growth factor signaling

Abstract Primary cilia are sensory cell membrane protrusions whose malfunction causes diseases known as ciliopathies. Joubert syndrome (JBTS) is a rare recessive ciliopathy causing brain malformations and kidney cysts, among other manifestations. A key player in JBTS is INPP5E, a...

Functional assessment of inherited myeloid neoplasm‐associated SAMD9L germline variants via Monoallelic CRISPR modelling

Summary While the majority of myeloid neoplasms are sporadic, the increasing application of germline genetic testing has led the World Health Organization to designate ‘ Myeloid malignancies with germline predisposition’ as a distinct clinical entity, carrying major implications...

Clinical Variability and Genotype‐Driven Outcomes in CHRND ‐Related Congenital Myasthenic Syndrome

BACKGROUND: Congenital myasthenic syndromes (CMS) caused by pathogenic variants in CHRND, encoding the δ-subunit of the nicotinic acetylcholine receptor (AChR), are rare, and data on genotype-phenotype correlations and long-term outcomes are limited. METHODS: We performed a retro...

Protocol for a feasibility randomized controlled pilot trial evaluating a teacher program to support preschool children with autism and language delay

Abstract Background Early intervention in naturalistic settings is essential for supporting young children with difficulties within the autism spectrum. In recent decades, there has been an increasing inclusion of children with developmental problems in mainstream schools. Howeve...

Tumor Necrosis is Associated with an Increased Metastatic and Cardiovascular Risk in Paragangliomas: A Single-Center Series and Meta-Analysis Comparing Necrosis and Cystic Degeneration in Paragangliomas

Abstract Paragangliomas (PGLs) are rare neural crest–derived tumors with highly variable morphology and clinical behavior. These tumors can present with cystic and necrotic alterations that may influence the clinical presentation of affected patients. However, prevalence and clin...

Cell Type‐Specific Extracellular Vesicles in Mouse Brain: Proteomic Signatures Highlight Astrocytic GlialCAM Network and GPCR Enrichment

Extracellular vesicles (EVs) mediate intercellular communication in the central nervous system (CNS) and are emerging as biomarkers of brain health and disease. However, the molecular composition of cell type-specific brain EVs, particularly astrocyte-derived EVs (ADEVs), remains...

Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.

) gene, which is associated with body mass index, cardiovascular health, and metabolic and respiratory traits. Taken together, our findings show that CIRdb presents a valuable resource of exome-wide genetic variation in a population at the edge of Southwestern European genetic di...

Cord blood DNA methylation differences associated with gestational diabetes and partial consistency with maternal methylation patterns

Gestational diabetes mellitus (GDM) increases offspring cardiometabolic risk, potentially through intrauterine epigenetic programming. We aimed to characterize GDM-associated DNA methylation differences in cord blood, evaluate their consistency with previously identified maternal...