A5049417245- Retinal Development and Disorders
- Cancer-related Molecular Pathways
- Ocular Oncology and Treatments
- Neuroblastoma Research and Treatments
- CRISPR and Genetic Engineering
- Retinal Diseases and Treatments
- Advanced biosensing and bioanalysis techniques
- Microtubule and mitosis dynamics
- Parathyroid Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Intestinal Malrotation and Obstruction Disorders
- Retinoids in leukemia and cellular processes
- Congenital gastrointestinal and neural anomalies
- Cell death mechanisms and regulation
- Photoreceptor and optogenetics research
- Cell Adhesion Molecules Research
- RNA regulation and disease
- Cellular transport and secretion
- Ocular Disorders and Treatments
- melanin and skin pigmentation
- Circadian rhythm and melatonin
- Connexins and lens biology
- Magnesium in Health and Disease
- Cancer Genomics and Diagnostics
Centre for Biomedical Network Research on Rare Diseases
2008-2025
Instituto de Biomedicina de Sevilla
2010-2025
Universidad de Sevilla
2010-2025
Fundación Instituto Leloir
2019-2023
Garrahan Hospital
2020-2021
Consejo Nacional de Investigaciones Científicas y Técnicas
2019-2021
Hospital Universitario Virgen del Rocío
2008-2010
Centro de Investigación Biomédica en Red
2010
Instituto de Investigación de Enfermedades Raras
2008-2009
University of Buenos Aires
2004
Abstract Background Despite the use of Next-Generation Sequencing (NGS) as gold standard for diagnosis rare diseases, its clinical implementation has been challenging, limiting cost-effectiveness NGS and understanding, control safety essential decision-making in applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into public healthcare system routine process during five-year pilot program. Methods Our approach involved customized probe designs,...
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss photoreceptor cells. We have recently identified new gene (EYS) encoding an ortholog Drosophila spacemaker (spam) as commonly mutated in autosomal recessive RP. In present study, we report identification 73 sequence variations EYS, which 28 are novel. Of these, 42.9% (12/28) very likely pathogenic, 17.9% (5/28) possibly whereas 39.3% (11/28) SNPs. addition, detected 3...
Abstract: During oxidative stress, cell apoptosis is promoted through the mitochondrial death pathway. Increased reactive oxygen species (ROS) are linked to excess loss and mediate induction of in various types. However, role ROS apoptotic pathway has not been clearly established. The aims this study were investigate biochemical morphological responses rat astrocytes hydrogen peroxide‐mediated define that melatonin might play cascade. Hydrogen peroxide (H 2 O ; 0.1–1.0 m ) significantly...
An uncommon subgroup of unilateral retinoblastomas with highly aggressive histological features, lacking aberrations in RB1 gene high-level amplification MYCN (MCYNamplRB1+/+) has only been described as intra-ocular cases treated initial enucleation. Here, we present a comprehensive clinical, genomic, and pharmacological analysis two MCYNamplRB1+/+ orbital cervical lymph node involvement, but no central nervous system spread, rapidly progressing to fatal disease due chemoresistance. Both...
Abstract Background Biallelic variants in EYS are the major cause of autosomal recessive retinitis pigmentosa (arRP) certain populations, a clinically and genetically heterogeneous disease that may lead to legal blindness. is one largest genes (~ 2 Mb) expressed retina, which structural (SVs) represent common disease. However, their identification using short-read sequencing (SRS) not always feasible. Here, we conducted targeted long-read (T-LRS) adaptive sampling on MinION platform (Oxford...
Comprehensive understanding of the genomic and gene-expression differences between retinoblastoma tumors from patients with bilateral disease may help to characterize risk optimize treatment according individual tumor characteristics.To compare features each eye a specimen an orbital relapse in retinoblastoma.In this case, 2 underwent upfront enucleation. Tumor samples were subjected analysis. Primary cell cultures established both 1 patient used for studies.Whole-exome sequencing was...
Most reports about copy number alterations (CNA) in retinoblastoma relate to patients with intraocular disease and features of children extraocular relapse remain unknown, so we aimed describe the CNA this population. We evaluated 23 27 specimens from 4 centers. Seventeen cases had after initial enucleation six an preservation attempt. performed analysis BCOR gene alteration by SNP array (Single Nucleotide Polymorfism array), whole-exome sequencing, IMPACT panel CGH (Array-based comparative...
Summary Hirschsprung disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in myenteric and submucosal plexuses due to defect migration process neural crest neuroblasts. Manifestation has been linked dysfunction two principal signalling pathways involved enteric nervous system (ENS) formation: RET‐GDNF EDN3‐EDNRB receptor systems. However, NTF3/NTRK3 pathway plays an essential role development ENS suggesting potential for those genes pathogenesis HSCR. We...
Purpose: Although there have been improvements in the management of metastatic retinoblastoma, most patients do not survive, and all suffer from multiple short- long-term treatment toxicities. Reliable informative models to assist clinicians are needed. Thus we developed comprehensively characterized a novel preclinical platform primary cell cultures xenograft retinoblastoma provide insights into molecular biology underlying metastases perform drug screening for identification hit candidates...
Purpose To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort Argentinean patients. Methods This retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD relatives from 16 them. Targeted next-generation sequencing coding splicing regions ABCA4 other phenocopying genes ( ELOVL4 , PROM1 CNGB3 ) was performed 97 Results We found two or more disease-causing variants gene 69/95 (73%) probands, single ABC A4 variant 9/95...
Pathogenic variants in the CLDN19 gene are responsible for Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) ocular pathology (MIM *248190). Our objective was to delineate ophthalmological genetic manifestations of a patient FHHNC pathogenic variant
ABSTRACT Missing heritability in human diseases represents a major challenge. Although whole-genome sequencing enables the analysis of coding and non-coding sequences, substantial costs data storage requirements hamper its large-scale use to (re)sequence genes genetically unsolved cases. The ABCA4 gene implicated Stargardt disease (STGD1) has been studied extensively for 22 years, but thousands cases remained unsolved. Therefore, single molecule molecular inversion probes were designed that...