Publications by authors named "Panagiotaropoulou Georgia"
Background: Accurate diagnosis of bipolar disorder (BPD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A depressive episode often precedes the first manic episode, making it difficult to distinguish BPD from unipolar major depressive disorder (MDD).
Aims: We use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores (PRS) that may aid early differential diagnosis.
Recent advancements in Parkinson's disease (PD) drug development have been significantly driven by genetic research. Importantly, drugs supported by genetic evidence are more likely to be approved. While genome-wide association studies (GWAS) are a powerful tool to nominate genomic regions associated with certain traits or diseases, pinpointing the causal biologically relevant gene is often challenging.
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- * The research identified 12 significant genetic markers linked to MG, with certain markers associated specifically with early-onset (under 50) and late-onset (50 and older) forms of the disease.
- * Additionally, the study highlighted the potential role of genetic factors in determining the age of disease onset and demonstrated that polygenic risk scores could help predict MG status, explaining over 4% of the variation in disease presence.
Background: Schizophrenia genome-wide association studies (GWASes) have identified >250 significant loci and prioritized >100 disease-related genes. However, gene prioritization efforts have mostly been restricted to locus-based methods that ignore information from the rest of the genome.
Methods: To more accurately characterize genes involved in schizophrenia etiology, we applied a combination of highly-predictive tools to a published GWAS of 67,390 schizophrenia cases and 94,015 controls.
Article Synopsis
- Accurately diagnosing bipolar disorder (BD) can take around 7 years due to its overlap with unipolar major depressive disorder (MDD), especially since the first manic episode often follows a depressive one.
- This study uses genome-wide association analyses (GWAS) and polygenic risk scores (PRS) from a large cohort to identify genetic factors that could help differentiate between BD and MDD early on.
- The results show that while BD and MDD are genetically distinct and share a continuum of genetic risk, larger future studies are needed to enhance the accuracy of these genetic predictors for early diagnosis.
Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 17 likely causal SNPs for BD.
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- There is a need for a new method to genetically differentiate between related psychiatric disorders like schizophrenia, bipolar disorder, and depression, especially when diagnosing patients initially is tough.
- The proposed method, Differential Diagnosis-Polygenic Risk Score (DDx-PRS), estimates the likelihood of each disorder using genetic data and existing case-control risk scores, making it practical for clinical use as it relies only on summary-level data.
- In tests using data from large psychiatric studies, DDx-PRS showed good accuracy and calibration in predicting diagnoses, outperforming simpler approaches and delivering results comparable to methods that use more extensive tuning data.
Article Synopsis
- * Researchers discovered 287 genomic regions associated with schizophrenia, emphasizing genes specifically active in excitatory and inhibitory neurons, and identified 120 key genes potentially responsible for these associations.
- * The findings highlight important biological processes related to neuronal function, suggesting overlaps between common and rare genetic variants in both schizophrenia and neurodevelopmental disorders, ultimately aiding future research on these conditions.
Article Synopsis
- - This study explored the relationship between parasympathetic regulation and cognitive inhibitory control under the Neurovisceral Integration Model in schizophrenia, comparing 30 healthy individuals with 30 patients.
- - Participants completed an antisaccade task while their heart rate variability was monitored, revealing a link between decreased parasympathetic activity (measured by HF-HRV) and increased cognitive errors in schizophrenia patients.
- - The results support the idea that cognitive inhibition and parasympathetic regulation share a physiological basis, suggesting future research could investigate this connection in other mental health disorders with similar cognitive deficits.
Article Synopsis
- The study investigates the genetic and phenotypic traits associated with age at onset (AAO) and polarity at onset (PAO) in bipolar disorder to enhance understanding of the illness and develop screening tools.
- Results indicate that an earlier AAO is linked to more severe symptoms, such as psychosis and suicidality, as well as variations in educational success and living situations.
- The research reveals a significant relationship between higher polygenic risk scores for other mental disorders and earlier AAO, although no significant associations were found for PAO, highlighting considerable variability across different cohorts.
This study examined whether Parkinson's disease (PD) and schizophrenia (SCZ) share a hypo dopaminergic dysfunction of the prefrontal cortex leading to cognitive impairments in decision processing. 24 medicated PD patients and 28 matched controls performed the Eriksen flanker two-choice reaction time (RT) task while brain activity was measured throughout, using functional Magnetic Resonance Imaging (fMRI). Results were directly compared to those of 30 SCZ patients and 30 matched controls.
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- Bipolar disorder has a genetic basis and complex causes; a large study compared nearly 42,000 bipolar patients with over 371,000 healthy controls, revealing 64 genomic regions linked to the disorder.
- The findings showed that risk-related genes are heavily associated with brain functions, particularly in areas like the prefrontal cortex and hippocampus, and they include targets for various medications.
- The research also distinguished between bipolar disorder types I and II, revealing a close genetic relationship and highlighting 15 specific genes that could lead to new treatment options and further investigations.
Article Synopsis
- RICOPILI is an open-source Perl-based pipeline designed for efficient processing of large-scale multi-cohort genome-wide association studies (GWAS), focusing on quality control, imputation, and analysis.
- It features automated processes that enhance computational efficiency, including technical and genomic QC, association analysis, and polygenic risk scoring, setting it apart from other GWAS pipelines.
- The pipeline's adaptable architecture supports various high-performance computing environments and includes tutorials and simulated datasets for user training, available at its main website.
In this study predictions of the dual-route cascaded (DRC) model of word reading were tested using fMRI. Specifically, patterns of co-localization were investigated: (a) between pseudoword length effects and a pseudowords vs. fixation contrast, to reveal the sublexical grapho-phonemic conversion (GPC) system; and (b) between word frequency effects and a words vs.
View Article and Find Full Text PDFIntroduction: Rhythmic gymnastics (RG) is an aesthetic event balancing between art and sport that also has a performance rating system (Code of Points) given by the International Gymnastics Federation. It is one of the sports in which competition results greatly depend on the judges' evaluation. In the current study, we explored the judges' performance in a five-gymnast ensemble routine.
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