A5037067952- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Alzheimer's disease research and treatments
- Chromosomal and Genetic Variations
- DNA Repair Mechanisms
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Autism Spectrum Disorder Research
- Metabolism and Genetic Disorders
- Bladder and Urothelial Cancer Treatments
- HIV-related health complications and treatments
- Congenital heart defects research
- Immunodeficiency and Autoimmune Disorders
- Connective tissue disorders research
- Cancer-related molecular mechanisms research
- HIV Research and Treatment
- Neurological diseases and metabolism
- Molecular Biology Techniques and Applications
- Mitochondrial Function and Pathology
- Genomics and Chromatin Dynamics
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- HIV/AIDS drug development and treatment
Centre for Biomedical Network Research on Rare Diseases
2010-2025
Hospital de Sant Pau
2019-2025
Instituto de Salud Carlos III
2007-2025
Universitat Autònoma de Barcelona
2021-2025
Centro de Investigación Biomédica en Red
2009-2024
Université Paris-Est Créteil
2024
Instituto de Investigación de Enfermedades Raras
2009-2023
Institut d'Investigacions Biomèdiques de Barcelona
2023
Biomedical Research Institute
2022
Universitat Pompeu Fabra
2009-2019
Autism spectrum disorders (ASD) are a group of neurodevelopmental with high heritability. Recent findings support highly heterogeneous and complex genetic etiology including rare de novo inherited mutations or chromosomal rearrangements as well double multiple hits.We performed whole-exome sequencing (WES) blood cell transcriptome by RNAseq in subset male patients idiopathic ASD (n = 36) order to identify causative genes, transcriptomic alterations, susceptibility variants.We detected likely...
Urothelial bladder cancer is a highly heterogeneous disease. Cancer cell lines are useful tools for its study. This comprehensive genomic characterization of 40 urothelial carcinoma (UBC) including information on origin, mutation status genes implicated in (FGFR3, PIK3CA, TP53, and RAS), copy number alterations assessed using high density SNP arrays, uniparental disomy (UPD) events, gene expression.Based patterns changes we identify representative the FGFR3-driven tumor pathway TP53/RB...
Autism spectrum disorders (ASDs) constitute a group of severe neurodevelopmental conditions with complex multifactorial etiology. In order to explore the hypothesis that submicroscopic genomic rearrangements underlie some ASD cases, we have analyzed 96 Spanish patients idiopathic after extensive clinical and laboratory screening, by array comparative hybridization (aCGH) using homemade bacterial artificial chromosome (BAC) array. Only 13 238 detected copy number alterations, ranging in size...
De novo mutations and structural rearrangements are a common cause of intellectual disability (ID) other disorders with reduced or null reproductive fitness. Insight into the genomic environmental factors predisposing to generation these de events is therefore significant clinical importance.This study used information from single nucleotide polymorphism microarrays determine parent-of-origin 118 rare copy number variations (CNVs) detected in cohort 3443 patients ID.The large majority CNVs...
Recently, pathogenic variants in the MLL2 gene were identified as most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate genotype-phenotype correlation, we studied a large cohort 86 clinically defined patients with (KS) for mutations MLL2. All assessed using standardized phenotype list and all scored newly developed clinical score KS (MLL2-Kabuki 0-10). Sequencing full coding region intron-exon boundaries total 45 likely (52%): 31 nonsense, 10 missense four...
Next-generation sequencing (NGS) has the capacity of carrier screening in gamete donation (GD) programs. We have developed and validated an NGS carrier-screening test (qCarrier test) that includes 200 genes associated with 368 disorders (277 autosomal recessive 37 X-linked). Carrier is performed on oocyte candidates male partner recipient. Carriers X-linked conditions are excluded from GD program, whereas donors chosen who do not carry mutations for same gene/disease as recipients. The...
Abstract Autism spectrum disorders (ASD) are highly heritable and genetically complex conditions. Although penetrant mutations in multiple genes have been identified, they account for the etiology of <1/3 cases. There is also strong evidence environmental contribution to ASD, which can be mediated by still poorly explored epigenetic modifications. We searched methylation changes on blood DNA 53 male ASD patients 757 healthy controls using a methylomic array (450K Illumina), correlated...
A decrease in the mitochondrial (mt) DNA to nuclear ratio has gained acceptance as a marker of toxicity treated HIV-infected patients, but functional meaning this alteration is unclear.We assessed mtDNA content, content and function peripheral blood mononuclear cells (PBMCs) consecutive asymptomatic patients. Patients selected had been receiving first-line highly active antiretroviral therapy (HAART) regimen for at least 6 months, consisting zidovudine plus lamivudine or stavudine didanosine...
Mosaicism for copy number and neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal population. However its prevalence is poorly defined since it only studied systematically one large-scale study by using non optimal ad-hoc SNP array data analysis tools, uncovering rather large alterations (> 1 Mb) affecting high proportion cells. Here we propose novel methodology, Mosaic Alteration Detection-MAD, providing software...
Abstract Objective COASY , the gene encoding bifunctional enzyme CoA synthase, which catalyzes last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has been linked to exceedingly rare autosomal recessive disorders, such as protein‐associated neurodegeneration (CoPAN), a form with brain iron accumulation (NBIA), and pontocerebellar hypoplasia type 12 (PCH12). We aimed expand phenotypic spectrum gain insights into pathogenesis ‐related disorders. Methods Patients were...
Abstract Background and purpose Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was characterize p.Leu2286Val variant 17 Basque patients, accurately determine its correlation clinical features explore possible founder effect variant. Methods Families harbouring p.Leu2286 underwent detailed evaluation, including muscle magnetic resonance imaging, electromyography biopsy. Haplotypes were...
Myocarditis has traditionally been considered an acquired condition, but recent evidence suggests a genetic contribution, primarily in complicated cases. Data on pediatric uncomplicated or infarct-like myocarditis remain scarce. This study aimed to assess the prevalence of pathogenic likely (P/LP) variants adolescents with and their association clinical imaging findings. prospective, multicenter included 30 diagnosed across five hospitals Catalunya, Spain (2016-2024). Diagnosis was confirmed...
The main objective of the present study was to ascertain if mitochondrial DNA (mtDNA) depletion as reported in HIV-infected patients with highly active antiretroviral therapy (HAART)-related lipodystrophy (LD) implies any degree respiratory chain (MRC) dysfunction. For this purpose, we evaluated HIV on different HAART schedules LD (group A; n=12) and but without B; n=12), untreated controls C; n=24). mtDNA content determined peripheral blood mononuclear cells (PBMCs) a real-time PCR method....
Obesity is a multifactorial disorder with high heritability (50-75%), which probably higher in early-onset and severe cases. Although rare monogenic forms several genes regions of susceptibility, including copy number variants (CNVs), have been described, the genetic causes underlying disease still remain largely unknown. We searched for CNVs (>100kb size, altering present <1/2000 population controls) 157 Spanish children non-syndromic obesity (EOO: body mass index >3 standard deviations...
Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is challenging since caused by point mutations large deletions in 22 genes following three heritability patterns. To optimise patients’ characterisation, we developed simplified but effective methodology based on whole exome sequencing (WES) functional studies. Methods 68 patients were analysed...
Abstract Background Germline genetic variation is associated with the differential expression of many human genes. The phenotypic effects this type may be important when considering susceptibility to common diseases. Three regions at 8q24 have recently been identified independently confer risk prostate cancer. Variation has also breast and colorectal However, none variants map or relatively close known genes, c-MYC mapping a few hundred kilobases distally. Results This study identifies...