Publications by authors named "C Rodriguez-Fontenla"
Article Synopsis
- The human genome acts as a blueprint for life, but its organization into structures like Topologically Associating Domains (TADs) influences gene expression and is crucial for understanding cellular functions and diseases.
- Advanced methods, especially in three-dimensional genome studies, have revealed non-random arrangements within the genome that play significant roles in transcriptional regulation and the development of diseases, particularly Neurodevelopmental Disorders (NDDs).
- Focusing on TADs, researchers are uncovering how disruptions in genome organization relate to the variability in conditions like Autism Spectrum Disorder (ASD), improving our understanding of genetic and epigenetic factors in these disorders.
Article Synopsis
- Obsessive-compulsive disorder (OCD) affects about 1% of people and has a strong genetic component, but previous studies have not fully explained its genetic causes or biological mechanisms.
- A large genome-wide association study (GWAS) analyzed data from over 53,000 OCD cases and over 2 million control participants, identifying 30 significant genetic markers related to OCD and suggesting a 6.7% heritability from SNPs.
- The research also found 249 candidate risk genes linked to OCD, particularly in specific brain regions, and showed genetic correlations with various psychiatric disorders, laying the groundwork for further studies and potential treatments.
Article Synopsis
- Autism Spectrum Disorders (ASD) are neurodevelopmental disorders characterized by challenges in social interaction and communication, with strong genetic links complicating the identification of causal genes, especially since most GWAS signals are found in non-coding DNA.
- Using a new tool called eQTpLot, researchers analyzed the largest ASD GWAS to date, involving a significant number of cases and controls, to discover overlapping associations between genetic variants influencing ASD and other mental health disorders.
- This analysis identified eight genes with strong eQTL signals in ASD, particularly noting the likely causal roles of MAPT, NKX2-2, and PTPRE in brain tissue, indicating their potential significance in understanding ASD genetics.
Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders (NDDs) characterized by difficulties in social interaction and communication, repetitive behavior, and restricted interests. While ASD have been proven to have a strong genetic component, current research largely focuses on coding regions of the genome. However, non-coding DNA, which makes up for ∼99% of the human genome, has recently been recognized as an important contributor to the high heritability of ASD, and novel sequencing technologies have been a milestone in opening up new directions for the study of the gene regulatory networks embedded within the non-coding regions.
View Article and Find Full Text PDFAutism spectrum disorders (ASD) is a complex neurodevelopmental disorder that may significantly impact on the affected individual's life. Common variation (SNPs) could explain about 50% of ASD heritability. Despite this fact and the large size of the last GWAS meta-analysis, it is believed that hundreds of risk genes in ASD have yet to be discovered.
View Article and Find Full Text PDF