Estrella López‐Martín
A5103020792- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Biomedical Text Mining and Ontologies
- Air Quality and Health Impacts
- Effects and risks of endocrine disrupting chemicals
- Nutritional Studies and Diet
- Mitochondrial Function and Pathology
- Health, Environment, Cognitive Aging
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Metabolism and Genetic Disorders
- Semantic Web and Ontologies
- Cancer-related gene regulation
- Ethics in Clinical Research
- RNA modifications and cancer
- Toxic Organic Pollutants Impact
- Neurogenetic and Muscular Disorders Research
- Environmental Justice and Health Disparities
- Bioinformatics and Genomic Networks
- Electromagnetic Fields and Biological Effects
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA and protein synthesis mechanisms
- Mercury impact and mitigation studies
Instituto de Salud Carlos III
2015-2025
National Institute of Infectious Diseases
2024
Instituto de Investigación de Enfermedades Raras
2015-2022
Centre for Biomedical Network Research on Rare Diseases
2017-2020
Provincial Institute for Hygiene
2015
Universidade de Santiago de Compostela
2011
For Europe as a whole, data on internal exposure to environmental chemicals do not yet exist. Characterization of the individual chemical environment is expected enhance understanding threats health.We developed and applied harmonized protocol collect comparable human biomonitoring all over Europe.In 17 European countries, we measured mercury in hair cotinine, phthalate metabolites, cadmium urine 1,844 children (5-11 years age) their mothers. Specimens were collected 5-month period...
Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate trials, improve care, and support healthcare management. They constitute a key information system supports activities European Reference Networks (ERNs) on rare diseases. A rapid proliferation RD has occurred during last years there is need to guidance for minimum requirements, recommendations standards necessary maintain high-quality registry. In...
The toxicity of methylmercury (MeHg) in humans is well established and the main source exposure via consumption large marine fish mammals. Of particular concern are potential neurodevelopmental effects early life to low-levels MeHg. Therefore, it important that pregnant women, children women childbearing age are, as far possible, protected from MeHg exposure. Within European project DEMOCOPHES, we have analyzed mercury (Hg) hair 1799 mother-child pairs 17 countries using a strictly...
Abstract Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield patients with rare diseases. However, cost and efforts required for reanalysis prevent its routine implementation in research clinical environments. The Solve-RD project aims to reveal molecular causes underlying undiagnosed One goals is implement innovative approaches reanalyse exomes genomes from thousands well-studied cases. raw genomic submitted through RD-Connect Genome-Phenome Analysis...
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because methods used missed cause in known gene, novel causative gene could not be identified and/or confirmed. To address these challenges, RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates collation, discovery, sharing, and analysis standardized genome-phenome...
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which involved sphingolipid biosynthesis, are associated with intellectual disability, but pathogenic mechanism remains obscure. Here, we characterize 31 individuals de novo missense variants CERT1. Several fall into a previously uncharacterized dimeric helical domain that enables...
Genetic diagnosis of rare diseases requires accurate identification and interpretation genomic variants. Clinical molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree rare-disease data (94.5% exomes, 5.5% genomes), performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed 6,004 families. We established a collaborative, two-level review...
Intellectual disability is a neurodevelopmental disorder, affecting 2%–3% of the population, with genetic cause in majority cases. ATP9A (Online Mendelian Inheritance Man (OMIM) ∗ 609126, NM_006045.3) has recently been added to list candidate genes involved this disorder identification biallelic truncating variants patients disorder. In study, we propose novel mode inheritance for ‐related disorders five de novo heterozygous missense (p.(Thr393Arg), p.(Glu400Gln), p.(Lys461Glu),...
Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step improve patient treatments and create the most adequate tools for personalized medicine. However, growing number of disease-specific brings also new technical challenges. Usually, systems developed as closed silos, with independent formats models, lacking comprehensive mechanisms enable sharing. To tackle challenges, we Semantic Web based solution that...
In rare disease (RD) research, there is a huge need to systematically collect biomaterials, phenotypic, and genomic data in standardized way make them findable, accessible, interoperable reusable (FAIR). RD-Connect 6 years global infrastructure project initiated November 2012 that links with patient registries, biobanks, clinical bioinformatics tools create central research resource for RDs. Here, we present Registry & Biobank Finder, tool helps RD researchers find biobanks registries...
One of the IRDiRC goals for 2017–2027 is to achieve definitive diagnosis rare undiagnosed diseases within one year, as delay in remains pending issues field. The Spanish Undiagnosed Rare Diseases Program (SpainUDP) was created response this challenging scenario cover patients’ needs and after seeing success (UDP) USA. SpainUDP offers a multidisciplinary approach those patients who have long sought without any success. During first phase protocol, cases are sent by individual or families,...
Abstract Background Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability variable severity and speech delay, hypotonia, heart eye malformations. Although loss function (LoF) mutations were initially reported as causing this disorder, missense mutations, to date always involving serine residues, have recently been form without cardiac involvement. Results In study...
Abstract Background Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 ( nucleus accumbens‐associated 1) missense variant was described in patient cohort including one combined mitochondrial oxidative phosphorylation (OXPHOS) deficiency. Objectives The objective is to characterize the disorder affected patients recurrent c.892C>T study protein...
Nature-based solutions (NBSs), defined as actions that work with and enhance nature, providing environmental, social, economic benefits, play a pivotal role in accomplishing multiple objectives within the Water–Ecosystem–Food Nexus domain. They contribute to facilitating transition more resilient agrifood systems an evidence base for broader policy dialogue. This paper describes stepwise methodology developed EU-funded LENSES project carry out comprehensive analysis of NBSs six pilot areas...
Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical studies. More than 2400 exome sequencing data sets were analyzed and screened autozygosity on the basis detection >1 Mbp runs homozygosity (ROHs). A model was built to predict if individual likely be consanguineous offspring (accuracy, 98%), probability consanguinity ranges established according total ROH size. Application resulted in reclassification status 12% patients. The...
<title>Abstract</title> The dysregulation of the epigenetic machinery has been linked to neurodevelopmental defects in humans. One such syndrome is Kleefstra (KS), which results from heterozygous alterations <italic>EHMT1</italic> gene, leading loss function. EHMT1 and EHMT2 are highly similar histone methyltransferases that play crucial roles development. Despite their similarity, <italic>EHMT2</italic> have not previously reported. In this study, we present a pediatric patient exhibiting...
The genetic etiology of intellectual disability remains elusive in almost half all affected individuals. Within the Solve-RD consortium, systematic re-analysis whole exome sequencing (WES) data from unresolved cases with (syndromic) (n = 1,472 probands) was performed. This included variant calling mitochondrial DNA (mtDNA) variants, although mtDNA is not specifically targeted WES. We identified a functionally relevant MT-TL1 (NC_012920.1:m.3291T > C; NC_012920.1:n.62T C), at heteroplasmy...
Introduction: There are currently several strategies developed to facilitate access and data sharing in the rare disease field. These have paid special attention importance of patient registries biobanks, as they essential tools for surveillance provision biosamples phenotypic genetic research worldwide. However, usually fragmented by disease, model country. Moreover, these resources restricted order protect privacy data.Areas covered: This article is an overview existing initiatives that...
Pathogenic hemizygous or heterozygous mutations in the IQSEC2 gene cause X-linked intellectual developmental disorder-1 (XLID1), characterized by a variable phenotype including delay, disability, epilepsy, hypotonia, autism, microcephaly and stereotypies. It affects both males females typically through loss of function haploinsufficiency females. Females are generally less affected than males. Two novel unrelated cases, one male female, with de novo variants were detected trio-based whole...
Abstract Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions mutations, has been recurrently involved in syndromic forms developmental delay intellectual disability, known as AUTS2 syndrome. The plays an important role regulation neuronal migration, when altered, associates with a variable phenotype from severely to mildly affected patients. more severe phenotypes significantly correlate...
Dysregulation of the epigenetic machinery is associated with neurodevelopmental defects in humans. Kleefstra syndrome (KS) a caused by heterozygous alterations gene EHMT1 that cause loss-of-function. EHTM1 and EHMT2 are highly similar histone methyltransferases play relevant roles development. Despite their similarity, individuals have never been described. Here, we describe pediatric patient KS overlapping phenotype single base de novo substitution causes amino acid change p.Ala1077Ser...
One of the IRDiRC goals for 2017-2027 is to achieve definitive diagnosis rare undiagnosed diseases within one year, as delay remains pending issues in field. The Spanish Undiagnosed Rare Diseases Program (SpainUDP) was created response this challenging scenario cover patients&rsquo; needs and after seeing success UDP USA. SpainUDP offers a multidisciplinary approach those patients who have long sought without any success. During first phase protocol, cases are sent by individual...