A5065304768- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Multiple Sclerosis Research Studies
- Genetic Syndromes and Imprinting
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Cytokine Signaling Pathways and Interactions
- Nutrition, Genetics, and Disease
- Aquaculture disease management and microbiota
- PI3K/AKT/mTOR signaling in cancer
- Parkinson's Disease Mechanisms and Treatments
- Genetics, Aging, and Longevity in Model Organisms
- Identification and Quantification in Food
- Bioinformatics and Genomic Networks
- Genomics and Phylogenetic Studies
- Neurological diseases and metabolism
- Alcoholism and Thiamine Deficiency
- Animal health and immunology
- interferon and immune responses
- Autoimmune and Inflammatory Disorders Research
- Granular flow and fluidized beds
- Health disparities and outcomes
- Telomeres, Telomerase, and Senescence
- Genomics and Chromatin Dynamics
Institute of Research and Innovation Parc Tauli
2019-2025
Universitat Autònoma de Barcelona
2019-2025
Corporació Sanitària Parc Taulí
2019-2025
Inserm
2020
Université de Bordeaux
2020
Universitat de Barcelona
2013-2020
Institut de Biologia Evolutiva
2013-2019
Universitat Pompeu Fabra
2013-2019
Centre for Genomic Regulation
2017-2019
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological genetic continuum. Objectives The purpose the present study was to assess mutation burden that is in patients with concurrent ALS FTD (ALS/FTD) not carrying chromosome 9 open reading frame 72 ( C9orf72 ) hexanucleotide repeat expansion, most important cause both diseases. Methods From an initial group 973 ALS, we retrospectively selected those fulfilling diagnostic criteria concomitant...
Do genes presenting variation that has been linked to human disease have different biological properties than never related disease? What is the relationship between and fitness? Are evolutionary pressures affect Mendelian diseases same those acting on whose contributes complex disorders? The answers these questions could shed light architecture of genetic disorders may relevant implications when designing mapping strategies in future studies. Here we show that, relative non-disease genes,...
The mTOR cascade is a critical player in the pathogenesis of focal epilepsies and cortical malformations, collectively referred to as mTORopathies. Ras homolog enriched brain (RHEB) gene member RAS-family GTPases potent activator mechanistic target rapamycin complex (mTORC1). Brain somatic variants RHEB have been described patients affected by dysplasia hemimegalencephaly abnormalities. Conversely, germline genetic poorly reported with neurodevelopmental disorders. This study describes...
Parkinson's disease (PD) can be divided into familial (Mendelian) and sporadic forms. A number of causal genes have been discovered for the Mendelian form, which constitutes 10–20% total cases. Genome-wide association studies successfully uncovered a susceptibility loci cases but those only explain small fraction (6–7%) PD heritability. It has observed that some confer to through common risk variants also contain rare causing mutations forms disease. These results suggest possible functional...
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation future reinterpretation. The Undiagnosed Rare Disease Program Catalonia project collated previously inconclusive good quality (panels, exomes, genomes) standardized phenotypic profiles from 323 families (543 individuals) with...
Essential trace elements possess vital functions at molecular, cellular, and physiological levels in health disease, they are tightly regulated the human body. In order to assess variability potential adaptive evolution of element homeostasis, we quantified 18 150 liver samples, together with expression 90 genes abundances 40 proteins involved their homeostasis. Additionally, genotyped 169 single nucleotide polymorphism (SNPs) same sample set. We detected significant associations for 8...
ABSTRACT Background The analysis of coverage depth in next‐generation sequencing data allows the detection gene dose alterations. We explore frequency such structural events a Spanish cohort sporadic PD cases. Methods Gene alterations were detected with eXome‐Hidden Markov Model (XHMM) software from resequencing available for 38 Mendelian and other risk loci 394 individuals (249 cases 145 controls) subsequently validated by quantitative PCR. Results identified 10 patients exon dosage PARK2,...
Background High-impact pathogenic variants in more than a thousand genes are involved Mendelian forms of neurodevelopmental disorders (NDD). Methods This study describes the molecular and clinical characterisation 28 probands with NDD harbouring heterozygous AGO1 coding variants, occurring de novo for all those whose transmission could have been verified (26/28). Results A total 15 unique leading to amino acid changes or deletions were identified: 12 missense two in-frame one codon,...
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures specific EEG abnormalities. There 10–15% patients an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on cohort 14 clinical features no molecular diagnosis. As result, we identified 10 de novo 1 X-linked...
Neurodevelopmental disorders (NDDs) affect 2–5% of the population and approximately 50% cases are due to genetic factors. Since de novo pathogenic variants account for majority cases, a gene panel including 460 dominant X-linked genes was designed applied 398 patients affected by intellectual disability (ID)/global developmental delay (GDD) and/or autism (ASD). Pathogenic were identified in 83 different showing high heterogeneity NDDs. A molecular diagnosis established 28.6% after high-depth...
Background: In clinical practice, there is the need to have and biological markers identify induced depression. The objective was investigate clinical, genetic differences between Primary Major Depression (Primary MD) Alcohol Induced MD (AI-MD). Methods: Patients, of both genders, were recruited from psychiatric hospitalisation units. PRISM instrument used establish diagnoses. Data on socio-demographic/family history, scales for depression, anxiety, personality stressful life events...
Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment ocular abduction and other variable abnormalities. MBS has been attributed to both environmental genetic factors as potential causes. Until now only two genes, PLXND1 REV3L have identified cause MBS. Results: We present 9-year-old male clinically diagnosed with MBS, presenting palsy, altered mobility, microglossia, dental anomalies torticollis. Radiologically,...
Accurate classification of genetic variants is crucial for clinical decision-making in hereditary cancer. In Spain, diagnostic laboratories have traditionally approached this task independently due to the lack a dedicated resource. Here we present SpadaHC, web-based database sharing cancer genes Spanish population. SpadaHC implemented using three-tier architecture consisting relational database, web tool and bioinformatics pipeline. Contributing can share variant classifications from...
We aimed to investigate whether NLR family, pyrin domain containing 3 (NLRP3) polymorphisms are associated with the response interferon-beta (IFNβ) in multiple sclerosis (MS) patients. A total of 14 NLRP3 were genotyped a cohort 665 relapsing-remitting MS patients recruited across 5 centers and classified into responders non-responders according clinical-radiological criteria after 1 year IFNβ treatment. meta-analysis failed demonstrate significant associations between polymorphisms. These...
Abstract Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the microdeletion, WDR26 FBXO28 , have been implicated monogenic disease. Patients with encephalopathy overlap clinically those syndrome, whereas only one patient has described. Seizures are prominent feature syndrome; therefore, we hypothesized that pathogenic variants developmental epileptic encephalopathies (DEEs). We describe nine new...
Genome-wide association studies and meta-analysis have contributed to the identification of more than 200 loci associated with multiple sclerosis (MS). However, a proportion MS heritability remains unknown. We aimed uncover new genetic variants determine their functional effects. For this, we resequenced exons regulatory sequences 14 risk genes in cohort patients healthy individuals (n = 1070) attempted validate selection signals through genotyping an independent 5138). identified three...
We report here the draft genome sequence of Aeromonas molluscorum 848T, type strain this species, which was isolated from wedge shells (Donax trunculus) obtained a retail market in Barcelona, Spain, 1997.
We present here the first genome sequence of Aeromonas diversa type strain (CECT 4254(T)). This was isolated from leg wound a patient in New Orleans (Louisiana) and originally described as enteric group 501 distinguished A. schubertii by DNA-DNA hybridization phenotypical characterization.
Association studies based on SNP arrays and Next Generation Sequencing technologies have enabled the discovery of thousands genetic loci related to human diseases. Nevertheless, their biological interpretation is still elusive, medical applications limited. Recently, various tools been developed help bridging gap between genomes phenomes. To our knowledge, however none these allows users retrieve phenotype-wide list variants that may be linked a given disease or visually explore joint...